Thalassemia Patients and Friends
Discussion Forums => The Spotlight => Topic started by: Rajiv on May 01, 2013, 07:32:46 PM
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My son has been diagnosed with compound heterozygous for two beta globin mutations from
both parents, C.-138 C>T (also known as -88 (C>T) and c.92+5G>C (also known as IVS-I-5 (G->C). He is entered
in fifth months and doing pretty good. He is active and feeding well and at present his blood level is around 9.5
We have done DNA testing for both of us, result of which are awaited. Then the doctor will let us know what severity
of disease will be. However, the doctor have recommended to give him folic supplement with the formula milk.
My question to Mr Andy is that it is thalassemia major or intermedia? The doctors have not confirmed it as they
also awaiting the blood reports.
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The -88 (C>T) mutation is a beta+ mutation and is mild. The IVS-I-5 (G->C) is also beta+ but considered more severe. I would not expect beta major from this combination. The -88 (C>T) mutation makes it more likely that thal intermedia and possibly even a thal minor phenotype may be the result. The current Hb is still good, and most severe cases would already be transfusing. The parental DNA test will be more revealing and I will be interested in the normal Hb level of the parent carrying the The -88 (C>T) mutation.
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Thank you so much, Andy
I am glad to read that. We have given blood sample for all testing including DNA for both of us (both parents). We gave those sample on 28 February 2013, reports still awaited. Why they (Labs) are taking too much time don't know. I pray to ALMIGHTY that your worlds should go correct. I have another son who is 10 years old and he has thalassemia trait. He is doing good and hardly we see doctor for him for any ailment. We both parents have beta thalassemia traits and with the grace of God, we both parents also hardly see any doctor for ourselves.
We also wish to express our gratitude for your flawless support, contribution, dedication and administrating such a best social organization (thal.com) . This site is great, all members are great, they quickly respond to the patients/parents. I am in touch of this site since the day when my son was called for new born baby screening as in his new born baby screening his blood was containing only Hb F. Hb A or A2 were missing. Doctor of my son is Dr Giardina of Weill Cornell Medical Collage, New York. We take our son for check up after every 3-4 weeks.
Thanks,
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Dr Giardina is very good. It is also a good sign that none of you have problems caused by thal minor, as this does give even more hope that the diagnosis will be intermedia. What I found most interesting is that people homozygous for -88 (C->T), meaning they have two of that gene, have a thal minor phenotype. It appears to be a very mild mutation.
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Dear Andy
Thanks a lot.
One more question that I have is that as per report in new born baby screening, the baby was diagnosed with compound heterozygous for two beta globin mutations from both parents, C.-138 C>T (also known as -88 (C>T) and c.92+5G>C (also known as IVS-I-5 (G->C). But as per your last message you mention it to be homozygous for -88 (C>T). Are these both mutation almost same or otherwise ?
My next appointment with the doctor is scheduled on 09 May 2013 and I will also let you
know the outcome of those reports.
Thanks and regards,
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No, I mentioned the homozygous -88 (C>T) to demonstrate that the -88 (C>T) mutation is a very mild one. That should lessen the severity of the phenotype when combined with another thal mutation, in this case IVS-I-5 (G->C).
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Thank you so much Andy
His blood was Hb F 100% . No A or A2 was present when he was around 20 days old.
Is this has any link with severity and when does a baby start making other hb ?
Thank for helping us and giving prompt responses. Your response clears our doubt.
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Both thal major and intermedia can give a 100% HbF reading at birth. This changes as the baby gets older and between 6 and 9 months, an electrophoresis will show a more clear picture of which hemoglobins are being produced. Has either parent had problems with anemia throughout their life?
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Thanks Andy for the immediate response.
May God bless all patients and families. Everybody should get God' blessing and cure for the disease.
Actually Dr Andy when my wife was around two months pregnant her hb level was 9 with hb F<1,
HbA 94.4, HbA2 4.7
my hb on July 20, 2012 was 12.4 wih Hb A 91.6, Hb F 2.0, HbA2 6.4.
My son who is 10 years old, his Hb level is 9.2 wih Hb A 93.3, Hb F 1.4, Hb A2 .3
I know these level for we all 3 myself, wife and son (elder) is below normal level. But we never faced any problem and never fell sick for any reason. Even we never get fever.
Andy if my son is intermedia then if any possibility that he will get some health problem.
Your help is much appreciated.
Thanks
Best regards
Rajiv
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Actually Andy I forget to mention that our blood level is not low
due to iron deficiency.
Hope this will help to give a conclusion.
Thanks and regards
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Dear Andy
My wife works very hard, she is house wife and in India she worked in the field for agricultural purposes and never faced
any problem with regards to anemia. I am a serving soldier who served 15 years in the armed forces and never fell sick and never
faced any problem due to anemia. My elder son has also been quite fine and until now there is no need to see the doctor for any ailment.
In my family and my wife's family there is no thalassemia history. We both belongs to different states of India. She is from Rajasthan and I am from Haryana.
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Rajiv,
Your Hb is on the low end of normal, which is good for thal minor. From the data I currently have, I suspect you carry the -88 (C>T) mutation. The signs are good that your son will have a more moderate type of thal, but keep in mind that many intermedia patients do transfuse. Were you both also tested for alpha thal in the DNA test? Has Dr Giardina given you any idea of what you should expect in the long term or is she waiting for the test results first?
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Dear Andy
Dr Giardina told me that they have received the report on A Globin and the reports on that are good for both the parents. Nothing abnormal found in DNA for A globin. When I asked about type of thalassemia she told that there are 10-15% chances that the baby has intermedia otherwise chances are for major as the baby has got two mutation. Except this nothing told to us. They are awaiting the complete DNA test report which include B globin and mutation site and likely severity of the desease. My next appointment with the doctor
is on 09 May 2013, hopefully they will tell us about the lab results/DNA. I will get a copy of those reports also. Will convey to you upon receipt. I have read article on intermedia in this site and have idea. With the help of you all my dear ones, we will take care of baby with medicines available and the transfusion if needed. We both parents are also ready to go for transplant if it gives a permanent cure. For that purpose, we also did swap test for my elder son to check if he is a perfect match for his younger brother or not. His result also awaited. They (Hospital) also took blood of the baby for HLA typing.
At our first appointment the blood level Hb of the baby was 8.6 so they (Drs) were expecting for likely transfusion. On our 2nd appointment the blood level Hb was 9.6. We are living with the baby and watching his activities. He is active and playing well by moving handing and legs with speed, he is trying to talk, sometime yelling as if he wants to say something and sleeping well. But one thing seems different is that he likes to take milk when he is tired/likely to get sleep. When awake don't want to have milk. In nights he take milk more than to day time especially when he is half sleep and half awake.
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Dear Andy
I went to the doctor today with the baby for regular/monthly check-ups. So far everything is going well. Baby is doing great.
His Hb level was 9.8 so nothing to worry about for this time now. I asked for the lab result. A globin result they have received and it is
negative, nothing abnormal was found in A globin DNA analysis. For beta globin DNA results are still awaited. I am in contact and
they will let me know when the reports are received. Today I have sent all reports to you on your email id - andy@thalpal.com for your kind perusal please. Please tell us if you observe anything that is different from what you have told us so far.
As per the medical authorities it was said that both the mutation are severe (one is beta+ and second is beta0). So the chances are that
baby is a beta thalassemia major patients who will require frequent medical attention and needed transfusion.
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The one report explains why the parents are tested, as the chromosomes the mutations are on in each parent will make a difference. The child is still so young that it is very difficult to predict from the current status. The parental DNA report will reveal more. As the report says "The genotype-phenotype correlations for beta globin mutations are complex." Often, waiting to see what happens is all that can be done. If the child's Hb holds at a decent level after 6 months, another electrophoresis is often done to get a clear picture.
I think much will depend on how much the C.-138 C>T mutation affects beta globin production.
Because there is a good possibility that the child will be transfusion dependent, the parents should prepare themselves for this event. Resist any suggestions that the child get a port, as this is mostly done for the convenience of the hospital staff and does pose risk of infection.
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Thank you so much Andy,
I will send you the Beta globin DNA report that probably I will get by Mon/Tue. We are ready to face any eventuality. Rest GOD will
decide the baby's fate. The doctor also told that DNA fully can not determine the severity of the disease. Like out of chromosome zone
some mutation related things happen that I could not understand and I did not take that seriously. In your response your advice given
in last para (port) I could not understand. I will be grateful if you please elaborate it. At this time, the baby is on formula milk (with iron) because milk (without iron) is not easily available on all stores and its too costly also. He is also being given folic acid and vitamins drops.
No other things are being given to the baby. If there is any need for giving cereals or other supplement/food to the baby, kindly let us know.
Thanks,
best regards,
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Hospitals will often push for a port to be surgically implanted in a child to facilitate transfusions. These are for their convenience and require surgery and pose a constant risk of infection. I would recommend that you be firm and tell them no when it is suggested.
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100% agree with Andy, Do not go with the port!
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Thank you so much Andy
Actually I was not aware about this. Now I got to this point and will make sure
denial of this when offered. About any requisite supplement at this point of time when
baby is in his fifth month your advise is requested.
Thanks and regards,
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Dear Andy
Greetings from New York
Yesterday I went to doctor for monthly check-ups of my son. His blood counts were okay. We also got our DNA lab report for
alpha and beta globin which I have sent you through email. Kindly have a look and let us know anything that you want to suggest
us for good health of the baby.
Rest next month he will turn six months and doctor will carryout electrophoresis test to know what type of blood the body is making.
As always we are grateful for the kind support provided by you and all the members.
Best regards,
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Dear Andy
Did you have a look at the reports? Do blood counts suggests anything abnormal or something that says his
blood counts is going down. We are giving him colic acid. Is his blood counts a result of taking folic acid?
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The reports verify the previously known information about the two beta mutations found in the child. There is no evidence that either parent carries any alpha mutations, and the polymorphism found has no clinical significance.
The child's blood reports are still good, but it's still in the first 6 months and fetal hemoglobin from birth may still be a factor contributing to the total Hb level. After 6 months. a new electrophoresis can be done which will give a more accurate view of the percentages of the various hemoglobins. Right now. the most important thing is that both parents are bonding with the child and that the beginnings of a healthy diet are instituted.
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Thank you so much, Andy.
We really appreciate help and the support provided by you and by the members.
Yes you are right the report tell the same things that you mentioned in your previous post. The mutation are exactly belonging to what you told. One mild one, belongs to me and other little more severe belongs to my wife. The doctors told us that they will
do the electrophorus test in next months when the baby is turned six months. Andy we are also planning to leave the thought of going through BMT as the research that are going today searching a permanent cure for this disease gives us a good hope for the future. So its better not to take a chance/risk. Further, so far we don't have a match also. His elder brother is not a match. We have not opted for HLA test . I will let you know the electrophorus test result in next months and also I will seek advice required.
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The one report explains why the parents are tested, as the chromosomes the mutations are on in each parent will make a difference. The child is still so young that it is very difficult to predict from the current status. The parental DNA report will reveal more. As the report says "The genotype-phenotype correlations for beta globin mutations are complex." Often, waiting to see what happens is all that can be done. If the child's Hb holds at a decent level after 6 months, another electrophoresis is often done to get a clear picture.
I think much will depend on how much the C.-138 C>T mutation affects beta globin production.
Because there is a good possibility that the child will be transfusion dependent, the parents should prepare themselves for this event. Resist any suggestions that the child get a port, as this is mostly done for the convenience of the hospital staff and does pose risk of infection.
Dear Friend,
I was reading your articles, both of our situations are same, My son is having almost the same mutations. Have you did Hb Electrophoresis for your baby.
I am also from INDIA - southern part, and also we don't have any family history. but unfortunately my son is diagnosed with "Thalassemia Major" which is a very long journey with lot of patience required for both parents and patients.
I am confused, I have a plan to do "Bone Marrow Transpltation" for my son, but I don't find any match with my daughter and parents as well.
You can think about "BMT" or Cord Blood Cell transplant in future, dicuss with your doctor about this.
There is a hope for the "Gene therapy" in future.
Closely monitor your baby with a good Heamatology doctor, since you are in New York there a lot of good hospitals you will find.
one thal patient is different from another thal patient.
sys
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Mother to child BMT's are becoming more common and are worth investigating. Our friends at www.curethalassemia.org just had a meeting at the Narayana Hrudayalaya/Mazumdar Shaw Cancer Centre, in Bangalore to begin their project of doing mother to child transplants. It is a possible option when there is no other match.
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Hello Sys
Sorry for delayed response. Actually I could not see the post for quite some time.
My son has been diagnosed as Beta thalassemia major based on the report. He is appx six months old
and so far his hb level is good around 9 to 10. By mid of next month his electrophoresis is due and then
the doctor will get to know what type of hb, his body is making. He is being regularly monitored for hb level.
We go to doctor every month for his regular check-ups. His elder brother is not a match for BMT. We are
yet to undergo for HLA test. Please mail your contact details so that we could speak on phone also.
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Dear Andy,
My son turned six months on 28 June 2013. So far his hb level is around 10. Next appointment with the doctor is on 18 July 2013.
On that day they will carryout blood electrophoresis to check which type of hb his body is making. Presently we give flood acid as
recommended by the doctor. In addition to this, do you suggest any other supplement or medicine which will help him to make
enough hb and allow him to stay in good health. Here we believe more on the advice of you and my other dear thalpal members.
Will be grateful for your advice.
Thanks,
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At this age, I would recommend folic acid and 100 Iu natural vitamin E, as this is a potent antioxidant, which can help protect the body from the effects of hemolysis, which destroys red blood cells.
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Thank you so much Andy.
We will start it immediately.
Best regards,
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Dear Andy,
My son turned six months and 20 days on 18 July 2013. As you all recommended we went for his electrophoresis. The result of the blood sample collected
on 18 July 2013 is as follow :-
Hemoglobin A - 0 (at birth it was same 0)
Hemoglobin A2 - 1.9 (at birth it was 0)
Fetal Hemoglobin - 98.1 (at birth it was 100%)
Hemo interpretation is - Hemoglobin F and A2 are present. These findings are most often associated with beta thalassemia major, although other genotypes
such as deletional hereditary persistence of fetal hemoglobin (HPFH) in trans with beta thalassemia allele is not entirely excluded. The presence of hemoglobin A
cannot be definitively demonstrated.
So far his health, growth and appearance is okay. Nothing seems abnormal. Can you suggest what type of protocol we should consider in addition to giving folic acid
and tri vitamin (vit E) to the baby. Suggestions and experience of friends who have faced the problems and guidance of Andy is much solicited.
Thanks and best regards,
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Dear Andy,
I forget to mention his blood level on 18 July 2013. These were :-
RBC - 4.72
Hemoglobin - 10.2
HCT - 31.0
MCV - 65.6
MCH - 21.6
MCHC - 32.9
RDW - 22.0
PLT - 479
MPV - 7.1
Hope this will help to give a fair recommendations/suggestion.
Thanks and regards,
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The total lack of HbA does indicate thal major. Unless some other factor like the mentioned HPFH is present, his Hb level will begin dropping as the fetal hemoglobin gene shuts off.
Observation of the child is important. If he becomes listless, pale and has poor appetite get the Hb checked.
If you can find a liquid multivitamin without iron, that would also be suitable at this age.
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Dear Andy
Thank you so much for the update. We even still not understanding what is going on. As literature says that fetal hemoglobin normally goes away within six months and adult
hemoglobin takes place. In this case, as we both parents don't have that HPFH history and reasons for the baby to have almost 100% fetal hb is not known. The baby is under constant watch and we follow each guidance and recommendations that we get from you, thalpal friends and doctors. In this case Andy can you tell us when we should think
of supplements like wheatgrass, HU (if it is recommended to be given). Kindly let us know. We give him folic and tri-vitamin.
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Hi , my name is Neale & I'm new to the group , I really don't know how to start this as I can feel myself breaking down already ...I've been a sufferer of my blood problems since birth & I am now 33 years old , I have obviously had hundreds of units of blood & also had my spleen removed when I was small , I used to deal with my health troubles so so well & so bravely but over the last 3 years I have been having great great difficulty trying to live with what I feel is just an ever lasting fight that I just cannot win ...I can't even hold a conversation together without crying , I just feel that it,s time to chuck in the towel ...I feel rather terrible saying this when I see such brave people on here fighting the good fight but I used to be one of you myself but it,s like I've just lost my will , I just can't get that edge back ...I have a daughter now who is 17 months old & I'm terrified of the day I have to say bye ....I take it out on my partner a lot of the time because I can't control my stress & anxiety ....I have testosterone that leaves me feeling very angry ..& I just don't know what to do ...my breathing has been getting bad of late & I'm now on a niv machine at home .but I'm just so scared that it,s my heart ..I've got this wheeze that I can't get rid of & I'm so scared to have my next echo ...I've been getting a lot of palpitations today but I don't say to anyone because I'm scared that I'm a burden to my wife ..she is such a lovely person ..my iron is back up & I'm waiting to go back to the hospital in London to see professor john porter to maybe start more chelation ,, I was told the other day that they have found me to have haemochromatosis now also , my last MRI was in 2011 & I had a score of 29 ,ms .....before I started chelation last time it was 8.3 ms ......my echo showed in 2011 an ejection fraction of 74% ...& my pulmonary pressures were normal ..I have cirrhosis of the liver that is stable at present but I am very yellow ..my blood problem is slightly different in the sense that I can go for 2-3 years without blood transfusion but then I can get unwell & have 12 units in one sitting ..I have a very very rare form haemolytic anaemia ..but the dr,s have always said it is just the same as thal major .....I just am in a very bad place at the mo & am very down ...I just don't know what to do anymore I don't know if I can keep going ....I'm coming to the end ......I can't put my family through the pain of sitting at my bedside in the hospital just watching me slowly fade away ..I won't let them go through that ....I'm so sorry if I sound selfish I just am so desperate ...I'm scared ......I'm so so scared ....
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Hi Neale,
You have problems that have solutions. Remember that. Speaking as a father of 5 kids, I will be frank with you. You have a child and that child has to come before you. For that to be possible, you have to find the strength within you to do all that is needed to turn your health around. You can get a lot of support here and find people to lean on, but you have to do your part. You need to contact Dr Porter immediately and make an appointment for a full evaluation, that includes liver and heart scans to determine your iron load. Please be aware that treatment has evolved so much, that blood disorders can be well managed as long as the patient is in a good treatment program and complies with that treatment.
Neale, if you really wanted to give up, you wouldn't have sought us out. Realize that and use it for strength, because something inside you gave you enough strength to look for help. I know a whole lot about how iron loading is treated and especially about the nutritional side of treatment, and I can advise you just as I advise many others. Those who listen and follow what they need to do, turn their lives around. But first, you need to get on a regular program and fully comply with your treatment. This can be managed as long as you are under an informed doctor, and few are as informed as Porter. Understand that you are in excellent hands as long as you are being seen regularly, and understand that you have to do your part.
The founder of this group gave up because she could not tolerate desferal, but today we have three chelators available, so there is no longer any reason to just give up. As a parent, I will tell you that you have much to live for, and I will also say that I have seen much worse cases turn around once the determination to do the necessary work was found. There is no reason to be thinking about saying goodbye to your daughter. Talk to Dr Porter about your concerns and fears, I am certain he will tell you the same thing. The tools are there to turn your health around, but you have to do what is needed.
If you are on Facebook, I would like for you to join one of the groups I am involved with running. There is a Facebook thalpal and also a closed thalassemia support group. I would be happy to add you if you wish. The reason I'd like you to join is because there are so many people your age in these groups and I think it would be really good for you to see how others manage their disorders. You will find many people who have had similar thoughts and have learned how to deal with them and how to get their lives back on track. Even if you are a silent member, you will still find much benefit.
You haven't told me anything that makes me think you are beyond help, but I feel that it is very important to attack your iron load now. Do not hesitate.
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Rajiv,
I am puzzled too by the continued high Hb level with HbF as most of the hemoglobin. I don't want to raise any false hopes because the Hb could begin to drop quickly, but if this Hb holds, further DNA analysis might be considered. I have read about cases of patients with two beta zero genes whose Hb remained in the 6-7 range because they had a very high production of HbF. Some beta deletions allow the gamma gene to reactivate. To put it simply, the absence of one gene allows room for the adjacent gene to operate. HPFH is not always easily diagnosed, nor is delta thal, and both can cause significant increases in HbF production.
At present, you can only observe and continue to have the Hb level checked. No intervention is needed at this time, so enjoy your baby, but prepare yourselves for the likelihood that transfusions will be coming.
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Neale,
There are two other things you need to have checked, your thyroid and your vitamin D level. Speaking from personal experience, both of these can cause emotional problems when low. Depression and a feeling of helpless desperation can be the result of these problems and once corrected, it becomes apparent that the patient wasn't actually emotionally distraught for any other reason than these deficiencies. Vitamin D deficiency is extremely common, affecting more than half of the world population. It is also extremely common (nearly 100%) in those with severe blood disorders.
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Hi andy , first of all thank you , like I said I just have bad times ,some days are better then others for me , you are right about my daughter , I know that I need to put her needs first , I just feel like this disease is robbing me of my farther time that I so desperately wanted if you like because I just can't get it out my mind , not even for a day , I have got another ferriscan & t2* booked & I have an appointment in 6 weeks to see porter & hopefully start back on chelation , I have never had exjade I always got the feeling that porter was much happier with me on desferal ...It worked pretty well before tho it is a very hard treatment I do fully understand the need for it , I think he was reluctant with the exjade due to my liver disease. ,,I am going to ask if I can have the defferiprone also as I have heard it is very good for myocardial iron loading , , can I also ask is my t2* an ok level being 29 milliseconds or is that still very low ????? ...don't know why but it is my heart that gives me my main concern , my farther died a very very short time ago from congestive heart failure tho that wasn't thal related it still hurt me very much to watch ...I am going to head down to the vitamin shop & get some things , I never ever take vitamins ..I should I suppose because I also have very severe osteoporosis ...I just am in desperate need to find my strength again ....thanks for being there to talk to me ...
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Dear Andy
Thank you so much for your quick response and kind support.
We will always try to make sure that health of the baby
is good by following proper medication, protocol and adherence
on suggestions of thalpal friends and its administrator, Andy.
Our next appointment is after two months. Will give you update
for that day. I will seek your assistance in case anything goes wrong.
Thanks,
Best regards,
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Hi Neale,
A cardiac T2* score of 29 is quite good. But when chelation is not fully compliant, iron can build in the heart rather quickly. Once you have new scans and know where the iron load is a problem, your chelation program can be designed for your needs. If there is any iron load in the heart, deferiprone is the best option. Express your concerns about your heart to Dr Porter and ask if you should be seen by a cardiologist.
You should be taking a calcium/magnesium supplement and vitamin D so that they are properly absorbed. Get your D level checked ASAP. It is most likely quite low. You want to have your level up to at least 35.
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Hi andy ,thanks for that help , I am going to push porter to start me on defferiprone as soon as I go back to the hospital , he always seems a reluctant to give me the tablets & always wants me to just have the infusion pump , I can't work out why ....I obviously know he has great ability in the field of iron storage disease so I don't really question his judgement , I had just the infuser for a while before & responded really well to it , porter actually was astonished how quickly my iron dropped ..my t2* was around 8 when I first met porter & my iron count was nearly 16000 ...16 thousand !!! & after around 15 months on the pump .obviously 24 hours a day 7 days a week it went down to 300 with a t2* of 29 ms ..I do have regular echo tests & my ejection fraction is 74% that again is up from I think around 58% ...but this is when porter has been quite surprised because iv,e had no blood & my iron is back up to around 1800 ...hundred ...not greatly high for me by any account but higher all the same ..it was then that he done a test & confirmed haemochromatosis also ...anyhow I am going to start the pills you recommend I,e, calcium & magnesium ...& I have also been sent my appointment for ferriscan & for a t2* ..so I will let you know results ...& thank you I must admit it has felt better the last few days just having someone who understands this terrible disease to talk to & seek advice from ..what are your thoughts on milk thistle also ...it doesn't contain iron if I was to take some does it ... ????? & do you think if my echo was ok 6 months ago & my t2* was 29 2 years ago ...& not had much blood since I could have heart failure this quickly ...??? & are there other problems with breathing & shortness of breath that thals experience ...apart from pht ...just can't put my finger on what this is ....can't help but worry ... Thanks andy ..& sorry for all questions buddy ...
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Neale,
Milk thistle is a very mild herb and I highly recommend it for its value to the liver and other organs.
I do not think you could have heart failure due to iron, because your iron load was addressed and your ferritin of 1800 would not indicate any serious issue. Is asthma a possibility?
I do know a thal minor who developed an asthma-like condition because she has extramedullary hematopoiesis (EM), a mass of red blood cells, growing in her abdomen and pushing on her lungs and reducing their capacity. EM occurs because the Hb is low and the body tries to grow red blood cells outside the bone marrow. Again, talk to Porter about your symptoms of shortness of breath. Ask him if the conditions have existed in your body where EM could have taken place.
Calcium and magnesium are essential for bone growth, as is zinc (zinc should be taken by anyone who has chronic low Hb), but calcium and magnesium are also the two minerals that control the two sides of the heart beat. Low stores or an imbalance of the two can cause issues like heart palpitations.
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Well that is very very helpful thank you andy , I have never heard that before about the em , I shall speak to him about that , please do accept my thanks andy , you are a very very special person to dedicate so much time & knowledge to helping people when times are bad & when times are good ...thank you ...
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Dear Andy
I went to the doctor on 20 September after a period of two months for check ups of my son who is approx nine months old.
His blood report was as under :-
RBC - 4.98
HGB - 10.7
HCT - 31.0
MCV - 62.2
MCH - 21.4
MCHC - 34.4
RDW - 22.7
PLT - 447
MPV - 6.6
His hb was 10.2 when he was around 7 months old comprising A2 1.9 that was within range and rest 98.1 was fetal. We are continue with folic and no other suppliment
being given to child. The type of mutation that my child has you are aware. This is for your information and suggestions thereon. When I asked the doctor is there any
possibility that the child can continue with good range of blood until his adulthood. They told that it is difficult to predict. Right now we need to monitor and give the baby
healthy diet that we are doing.
Thanks and regards
Rajiv
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Rajiv,
Is another hemoglobin electrophoresis test planned? It would be helpful to see if there has been any changes in the percentages and it is appropriate at this age.
At this time, I would suggest that you look for a liquid multivitamin without iron to give to the child.
It is encouraging that the Hb has held high. If transfusion should have to commence in the near future, the fact that you have waited this long means that chelation probably wouldn't have to start before age 2.
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Dear Andy,
Thanks for the quick reply. Actually this time the doctor did not recommend any test and we also could not think about that.
The last electropherosis test was done two months ago on 19 July when he was 7 months old. In his report he was stated a case
mostly likely to associated with Beta Thalassemia major. But other factor a case of HPFH can not be ignored. Also the presence
of Hb A could not be definitely demonstrated.
I forget to mention we are giving
multivitamin without iron to the baby. Will see the doctors after two months in November than we will ask for it. Andy, is it possible
a person with two beta thalassemia mutation c.-138 C>T and C.92+5G>C can be a case of HPFH? Just seeking some hope otherwise
we are okay with the destiny and ready for any eventuality. Also if there is requirement of going another electropherosis before November
(when he will be 11 months old) kindly let us know so that we can get it done.
Thanks
Best regards,
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Dear Andy
My son has very few hairs on his head. His is 9 months and 3 days old today. May be this is a because of his illness. Though his hb level
remains good at around 10 and last time on 19 September it was 10.7
I have posted almost all of his report. Kindly confirm is it because of disease or some other factors contributing. Suggestions from all friends are solicited.
Thanks
best regards,
rajiv
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I would doubt that it has anything to do with thalassemia. Does your doctor think anything is wrong? It may be that the child is just slow to grow hair. Does he have a good appetite and is he eating nutritious foods?
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Dear Andy
Thanks for immediate revert back.
We did ask the doctor but they told it not to be associated with the thalassemia disorder.
The baby is very active. Playing almost all day when awake. Eating well. We give healthy diet
Including folic acid and liquid tri vitamin without iron. It's good to learn. May be slow hair growth.
There are thin and small hair on his head but not fully covering the head.
We were worrying so we're seeking suggestions.
Thanks
Best regards
Rajiv
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Dear Andy
My son's next visit to the doctor is planned in the last week of November 2013. So far his hb level has been good. He entered in his 11 months on 29 Oct.
It was 10.7 when last visited to the doctor on 19 September. His appetite is good, energetic and does a lot of activities.
He craws good. Can stand and walk with the help of table, sofa. His first tooth has come.
He eats well the health food includes cereals, milk and vegetable/fruit (Gerber 2nd food). In addition we give him folic acid and tri-vitamin with no iron.
In his last electrophoresis at the age of 7 and haft months his hb was A (nil), A2 (within range 1.9) and fetal hb 98.1
My question to you is what type of test we should go for during this visit. Another electrophresis and the others. Kindly suggest.
Thanks,
best regards,
-
Rajiv,
The only test necessary will be the blood count to check the Hb level. A complete blood count and hemoglobin electrophoresis may be done, but they may decide to wait until the child has passed one year of age.
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Dear Andy,
Thank you so much for the quick advice.
The hb count the doctors do everytime we visit them at Weil Carnell.
We will get the eletrophoresis done during this visit to see what is
the improvement related to formation of hb A.
Your help and advice means a lot for us. GOD bless you, all thalpal members (patients and friends).
May GOD give us a permanent solution to our problem.
Thanks
best regards,
Rajiv
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Dear Andy,
My elder son who is around 11 years old is a thal minor. His hb level remains around 9.1 at all time.
We did his blood test for iron deficiency but that was not the case for low hb level. He is enegetic too.
The thing is he does not eat enough food. We advice and ask him every time he eats but he leaves it unfinished.
Kindly suggest what we should do? He is also not keen on taking juice and fruit. Very few fruits he likes.
Will be grateful for the advice
Thanks
Rajiv
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Rajiv,
This is a problem for most parents in general, including me. If the boy will drink smoothies, fruits and even veggies can be incorporated in a good tasting nutritious drink. Bananas are good nutrition and should be encouraged if he will eat them. For some good tips on getting kids to eat healthy foods, see http://www.helpguide.org/life/healthy_eating_children_teens.htm
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Dear Andy,
Thank you so much. We will try these options.
We really appreciate the information provided.
My other younger son who is now around 13 months is also doing good. For far his hb is around 10.
Energetic & doing great. Got his four upper and two lower teeth. Going to see the doc by end
of January for follow up.
Best regards,
Rajiv
-
Sometime ago I recommended Nutri Bullet product that makes wonderful smoothies. I still like the product.
http://www.thalassemiapatientsandfriends.com/index.php/topic,4757.0.html
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Dear Andy,
Yesterday we went to the hospital for check up for my son who is now 13 months and 20 days old. I am giving
His blood result details as follows:-
WBC - 16.1
RBC-4.94
HB-10.7
Hematocrit-32.1
Mean corpuscular vol-64.9
MCH-21.5
Mean corp HGB-33.2
Red cell dist width-23.4
Platelet count-518
Mean platelet volume-8.6
Reticulocyte count-3.52
Absolute count-174.3
Kindly let me know if anything is attentive at this point of time.
Blood electrophoresis result I will let you know when I get it probably within next few days.
Thanks and regards
Rajiv
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Dear Andy,
If Hb level of my son is maintained at or around 10 even if it is 90% fetal hb. Then do we need to have him transfused.
As per doctor they were mentioning that fetal is easily breakable and does not give requisite energy to the body. Therefore
the baby may need transfusion.
I want to mention that he is energetic and does lot of activities. He got his four upper teeth and two lower. He is walking now and eats well.
Hard to hold him when nurses want to take his blood for lab test.
Kindly suggest what we should prepare for at this point of time. I will post you electrophorous result later when I got it.
Thanks and regards,
-
Rajiv,
Fetal hemoglobin has a high affinity for oxygen, which means that it carries oxygen easily, but also does not let go of it as easily as it does with adult hemoglobin. However, it does supply oxygen throughout the body and is an acceptable substitute for HbA. You have to go by your son's energy levels and his growth pattern. If he is energetic and growing, transfusion should not be considered, as his Hb is still quite good.
I feel there is a problem here. Your son may be an excellent candidate for hydroxyurea treatment because he still has not transfused after a year. However, it is difficult to get doctors in the US to try hydroxyurea in thal patients. So, I would encourage that wheatgrass be given to the child in some form to see if it can help boost the Hb level. I would also suggest bringing up the subject of hydroxyurea with your doctor. Some doctors have had good results using a program of hydroxyurea and wheatgrass, especially with patients who have not required transfusions during their first year.
-
Dear Andy,
Many thanks for the quick response. I have bought wheatgrass powder from GNC today.
Kindly let me know how much quantity we should administer him and with which way. I mean we should mix that in milk or juice. His weight is 9.45 kilograms and height is 0.77meter. I will ask the doctor for hydroxia option. What I was under impression is that hydroxia can cause impotency. Is that correct or I am misunderstood for that. Kindly clarify. I will be going back to India by end of this year permanently. We can go for hydroxia option there if is recommended for my son that time. Waiting for the response.
Thanks and regards
Rajiv
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Rajiv,
You can mix the powder with juice.
Hydroxyurea can cause temporary sterility but this is restored when the drug is stopped.
Where in India will you be located?
-
Dear Andy,
Probably in Jaipur or in Haryana close to Delhi. We have flat/house at these two places. My son cry a lot when he fills some discomfort or pain and that time it's difficult to have him calm. I hope taking this medicine will not affect his easy/happy living. I mean stomach pain, itching, and same type of related issues.
He has been taking tri vitamin without iron and colic acid since he was two months old.
Thanks a lot Andy for quick help. We are grateful to GOD who gave us such a kind and helping friend.
Best regards
Rajiv
-
You may have a better chance in India of finding doctors willing to try hydroxyurea. Dr Viajy Ramanan of Pune has had some success with children who did not require transfusions during their first year.
-
Hi Rajiv,
You can contact Dr. V P Chaudhary also. if you need details i can give you. moreover you need to contact National Thalassemia welfare Society Delhi. they organise camp on Tilak Nagar on every second sunday of the month where you can meet with him.
Regards
Sushil Thakur
-
Dr. V P Chaudhary comes highly recommended.
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Dear Andy and Sushil,
Thanks a lot. I will speak to the doctor here and then will go for the treatment.
Best regards
Rajiv
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Dear Andy,
We went to the doctor two days back. Get the electrophoresis done for my son who is 15 months old now. The report is
Hb A - 5.7
Hb A2 - 2.0
Hb F - 92.3
Hb - 9.8
wbc count - 15.0
rbc count - 4.85
Hematocrit - 30.9
MCV - 63.7
HCH - 20.3
Mean Corp Hgb conc - 31.8
Red cell distr width - 25
Platelet count - 500
Mean platelet count - 8.5
I am attaching head circumference and body weight chart for my son. Dr Giardina advice me to have the baby transfused so that they can see if that changes
development of the baby. She told me that head circumference is higher and if we want to stop it from more expansion that may have caused due to illness
we should go for the transfusion. I am attaching the result report and chart at email : andy@thalpal.com. Kindly suggest what to do. Doctor also discouraged
me for hydroxyurea and wheatgrass. As per her advise these are not going to change anything rather she advised us for transfusion that give good quality of life.
As per her advice the Hb A is not going to go higher than this 5.7 to 6/7%.
I shall be grateful for the response.
-
Rajiv,
I will reply to this by email. If anyone has an explanation as to how a child could have skeletal deformities when the Hb is no lower than it would be if transfusions were taking place, I would like to know the explanation.
And to anyone asking about wheatgrass, why even mention it to your doctor? It's a food. You don't tell your doctor you eat a salad, so why ask if it's OK to take wheatgrass. If you eat bread, you eat wheat. I generally recommend Kamut grass because Kamut is the original form of wheat before it was hybridized.
-
Dear Andy,
Thanks a lot for the quick reply and the guidance. I really appreciate and I am grateful for it.
We all thalpal patients and friends are fortunate to have you with us all the time for our assistance.
Yes you are right about not mentioning giving of wheatgrass to the baby. But it was mentioned only when doc
asked what are the food and supplement that you are giving him in addition to folic and tri vitamins.
I completely agree the points highlighted by you. After your response I don't think there is any requirement for the baby
to go for transfusion unless there is explanation comes from someone who had such a experience and who saw expansion
of skull because of this illness despite baby having maintained hb 10 all the time until his present age (16 months running).
I will see here any doctor who give us prescription for hydroxyurea. I would also like to ask if there is any blood test required
to be done before trying hydroxyrea just to see if the medicine will work for him or not.
Best regards,
Rajiv
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Hi Rajiv/Andy,
Was going through this thread, the same thing 2 of the doctors said (the forehead/skull size).
I can not explain how a doctor explains to a doctor , but this is what a doctor said to me.
When the intermediate thal leads to major thal, then the above behavior is seen.
-
There are changes to the bones and skull in patients who should be transfusing. The question in this case is how can transfusion help when the patient's Hb is still as high as it would be if the patient transfused.?
-
Thanks Andy. This cleared a point in my mind.
Hi Rajiv,
Can you please tell me the medicines you are using for your kid. My daughter (1 year) has the similar symptoms. To be precise , the HB count was 5.4 with Adult HB of 0. Till now there has been 3 transfusions. The fetal HB was same like the one you have posted.
Thanks,
Eki
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Hi Andy,
Our 18 month old daughter just started transfusing. Dr. Mahoney is her hemotologist at Texas Children's. She genetically was supposed to be thal major but clinically presented as intermediate. Her HB ran in the 8 range. The reason he decided to start transfusing her was not the hemoglobin but the bony changes. Her head is enlarged, she has weak bones (fractured her wrist right after 1st birthday), and also chooses not to walk (although she CAN). I asked the same question, how could a point and half do any good? From his explanation I understood that first, her body is creating tons of disfunctional cells (sickle cells), and also the bone marrow is in overproduction mode. Apparently these extra cells store themselves into the bones, making them expand and not as strong, thereby causing the bony changes and deformities. He said once she starts transfusing her own "factory" will calm down, and the bones should start to develop normally. I hope I've remembered everything he said. This explanation was so thorough that we had no reservations about starting her transfusions (even though we were so scared!) She has only had two transfusions so far but her physical progress is phenomenal and we know we made the right decision :)
-
The difference with Rajiv's child is that the Hb was above 10 until recently. If the Hb has dropped below 9 already, there would be no question about transfusing, but it has only now dropped below 10. If it continues to drop, there will be no point in avoiding transfusion, but it should be below the point where it would be after transfusion if transfusions are to begin. This may happen quite soon, but from the beginning, this case has defied the predictions.
-
Sorry Andy, I should've been more specific... Referring to the RDW count for Rajiv's son, I believe these are the variable widths of cells that are created. Since the number from last July is at about 22, this is what I was referring to about the cells causing bony changes (if it's coupled with high MCV). Please correct me if I'm way off base. I will reconfirm this info next week at M's transfusion, as it's been a while since her doctor explained that part to us. I'm very intrigued about thal intermedias like M that don't "follow the books". Just wanted to thank you for all the info you put on here... It's an amazing support for our family.
-
Dear Princess M
Sorry for the late reply.
Actually I could not see the message.
For my son his hb level remains around 10. Sometimes it is above 10 (10.7) sometimes it is 9.8 something.
His head is little big in comparison to the kids of his age. Doc was thinking that this may have due to
thal and the bad red blood cells being produced by the body. Therefore they recommended transfusion
but before that they referred my son for head x ray to see if this is because of thal. Doc finds nothing
abnormal and no bone abnormalities observed. Therefore we are not considering anything extra just stick
to tri vitamin and folic acid and other healthy veg, milk and fruits.
Thanks
best regards
-
The cause of bony changes in thals is low Hb. As the Hb drops, bone marrow activity increases as the body attempts to grow more red blood cells (you will see this reflected in RBC and RDW. The MCV in thals is much lower than normal.), and the bone marrow expands causing weakening and expansion of the bones. The patient can be examined and evaluated to see if this is taking place. In your child's case, this had already begun, so transfusion was commenced. Rajiv's son's x-rays showed he has not yet reached the stage where this happens, but based on genotype, the boy will most likely eventually require transfusions. When the Hb stays high, it can delay transfusions, it makes it easier to find veins and the patient won't have to chelate as early, which does make it easier once chelation begins because the child isn't as young.
-
Thanks Andy for the clarification. We never had the X-ray done just because the actual measurement was off the chart in comparison to her age group. Kinda wondering if we should've. Sorry for taking over your thread Rajiv... Andy in the cases of our kids that genetically are supposed to be thal major but present as intermediates... Are there any tests that can be done to find out why? Like any other influential factors that can be tested? Thanks.
-
Princess M,
There can be other genetic factors that affect the severity of thal major. These include carrying an alpha deletion also, beta zero where the complete deletion allows for the gamma gene to be active and produce a high amount of fetal hemoglobin and certain polymorphisms. There are also factors that are unknown or poorly understood. I would say that something like this is present in Rajiv's child. I would be very surprised if the child doesn't transfuse by age 2.
The measurements can show if growth is not as it should be. This combined with a dropping Hb is enough to initiate transfusion, as there is no further point in delaying once the Hb does drop. Rajiv's son has maintained an Hb of a thal minor and has normal energy, growth and activity. If any of this is to change, transfusions will be reconsidered. I do encourage all parents to have a baseline hemoglobin electrophoresis test before transfusion, so there is a record of the HbF level. This can give a clue to whether or not fetal hemoglobin inducing efforts may be effective.
-
Hi Andy
My next appointment with the doctor for my son who is 19 months old is on 10 August. Two months back his hb was 9.7 and he
is eating well, playing well and energetic. The doctor had asked me to test his sonogram for spleen check up.
He has never been on transfusion and his hb also remains between 9 and 10. Please advise if he has to undergo for it now.
Also tell us if his folic acid dose whether we have to keep the same dose or ask doctor he recommends to give it little more.
I have no idea but keeping his growth in mind seeking your advice.
I shall be grateful for your advice.
regards
Rajiv
-
As long as his Hb maintains above 9, transfusion is not needed. What is his dose of folic acid?
-
Dear Andy
My apology. Actually I was asking whether we need to undergo sonogram for spleen check up.
His folic acid dose is half tablet of 1MG tablet. Though the doctor could not feel tip of it when they
examined it during regular check up manually and not through any sonography.
As far as his hb level is above 9 we would not go for transfusion.
Thanks a lot for the help and quick reply Andy.
Best regards
-
Yes, spleen size needs to be monitored in all patients. A sonogram will show more than can be learned from a physical check of spleen size.
-
Dear Andy
My son is 21 months old now. He is eating well, playing well and has good energy level. His blood level is above nine so far.
For the last two days he is developing rashes in cheek and face. These rashes comes and disappear within half an hour.
Don't have any idea what is going on. Will discuss it with doctor during my appointment with doctor by this weekend. Any idea why this is happening. He is not taking anything except tri-vitamin and folic.
Kindly advise.
Regards
-
Rajiv,
It may be an allergic reaction. Do you notice it happening after eating any specific food, taking a supplement or being exposed to plants or animals?
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Dear Andy
Thank you so much for your quick reply.
Actually he is almost taking the veg food that he likes. Nothing different. We don't think he is exposed to something which may be allergic. We live in the same apt neat and clean. This is happening for the last two days. When he wake up in the morning we notice it and after five minutes these are gone. We can not trace them they are gone in such a way. We try to notice it if this is because of anything that he does not like or allergic.
Thanks and regards
-
Hi Andy
Sorry for not being able to write or inform anything on thalpal about the health of my son.
My son electrophrosis and hb report on his 2 years and 7 months of age is given here as under :-
Ferrittin - 31.7
Hb - 9.1
WBC - 9.5
RBC - 4.38
HCT - 28
MCV - 63.9
MCH - 20.8
MCHC - 32.5
PLT - 512
His electrophoresis is Hb A - 22.6
Hb F- 74
Hb S/D - 0.8
Hb A2 - 2.6
Andy his hb A was at birth 0, on sixth months of age - 0, on 13 months - 7 and on two years and seven months it is 22.6
This we should take that his beta globin has started little bit better or it does not mean that way. Kindly suggest. We give
him folic acid and tri vitamin (without iron).
Regards
Rajiv
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Rajiv,
This is definitely intermedia. Major would not have HbA and this is a good percentage. If this child's Hb drops to lower ranges, I would suggest hydroxyurea therapy before transfusions are tried. Continue to give him folate, and the vitamins. When he is older and can easily swallow pills, we can look at adding to the supplement regimen.
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Hi Andy
Thanks a lot for your quick advice. Will try hydroxyurea. So far Dr has not advised it. I am going to see Dr VP Choudhary in Delhi to take his advice on health of my child and his recommendations for any medicine. I will update accordingly. Also want to inform that his liver, spleen, head reports were normal. We got these reports done when he was 2 years and 3 months old. I appreciate your support to all thalpal and for creating this wonderful and helpful site for all of us.
Thanks and regards
Rajiv
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Hi Rajiv,
As discuss over phone,Just to update you that my daughter HPA was 8.3, HBA2 2.3 and HB Fetal was 91%.
Hope this helps you.
Regards...Sushil Thakur
-
namaskar Rajiv sir,
first of all my salute to you,
i am dr rajpal singh, {bams, MSc Yoga[sch.]}, worked in patanjali hospital, Manesar gurgaon for 2 and half year.
new in this group, read all about your child and family.
i have got positive result in first case of thalassemia major,
it would m my pleasure if i can help you any.
you may contact me at
drrajpalsingh11@gmail.com
+91 7389252649
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Dear Sushil
Thanks a lot for your quick reply.
Regards
-
Hi everyone,
My son is the same as Raj. He is 13 months and his HB is 10.5. He has plenty of energy and he eats well. His last test showed his A2 at 2 and his Fetal Hg at 98%. He is definitely Thal Major from the numbers. I just wonder if maybe he has one of the mutations that will help him to keep his Hb up. I hope so anyway. I have heard different things as to when to expect his fetal hg to drop. The doctors said at 6 months, but I read on here somewhere that it would be around 14 months. I am really afraid of what will happen when his fetal hg starts to drop. What can I expect? Will he get really sick or not. How will I know when it is happening? The doctor said just to look at his color and that should give me a good indication that his fetal hg is dropping. Can anyone tell me what to expect?
Thanks,
Lisa
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Lisa,
Has a DNA analysis been done to look for the specific mutation? Sometimes patients do have certain types of deletions that are accompanied by high activity of the adjacent gamma gene, which causes production of HbF. There are patients with intermedia phenotypes who are beta zero, because they have a high production of HbF. In other cases, it just takes longer before the gamma gene becomes mostly inactive. Sometimes it just means delayed transfusions and sometimes it affects the approach to treatment. Even when it results in regular transfusions, but at a later date, it is preferred, as it also means chelation can be delayed until the child is a bit older and will have an easier time with the chelation drugs.
-
Thanks Andy,
We did do another DNA test and we are waiting on the results. I think I should know on August 21st when we go back the specialist.
Thanks,
Lisa