Thalassemia major or intermedia

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,

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.

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. 

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 ....   

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.

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.

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.

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 ...

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,

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.

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 ...

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.

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 ...

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

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.