My son has been diagnosed with Thalassemia intermedia....Please help

Hi everyone

My son has recently been diagnosed with Beta Thelesimia intermidia. I have a Beta Thelesimia trait and before we had any children my wife was told that she does not have any traits at all. Since my son has been diagnosed they are doing more blood tests on my wife to see what she has. We are currently waiting for my wife's DNA test.

My son is 3 years old and is growing up perfactly. We would have never known if my doctor did not keep probing into finding something wrong with regards to Thelesimia. Myself and my wife are now worried all the time even though the doctor seems to think that looking at my son, my son is suffering from a mild form of Thelesimia intermidia and so should not have any problems. My sons Blood hemoglobin level is 8 and his iron level is normal. My daugter who is 6 has no problems with regards to Thelesimia.

If you dont mind I had a few questions that I would like to ask you.

1) From what I have told you about my son, do you think he will lead a normal life? (My son has no abnormalities of any sort at all. He is a very active and clever child and he does not keep falling ill)
2) Can taking Wheatgrass increase his hemoglobin levels? My son is currently taking Folic  acid but would Vitamin A help too?
3) My sons hemoglobin level is 8 at the moment, do you think this will increase with age? but obviously stay below a normal adult level?
4) Can I take my son for a private Bone marrow transplant some where in the world and get this problem cured? or Can I take him somewhere for a gene therapy?
5)Are there people where they have this sort of Beta intermidia and they can lead normal life? without any bone changes??



Is there anything I can do? before my sons face or body starts to change? is there a glimmer of hope out there?

Many Thanks and Best Regards.
Manish

Manish-

 


Welcome to the boards! My name is Courtenay and I am a Thal Minor with symptoms (I specify this for you because some minors don't have symptoms and some do...The diagnosis of Intermedia is genetically based)

First of all, I'd like to address your concerns over your wife not "supposed" to have the thal gene.  There are many Hemoglobin mutations and "silent" gene mutations that could have affected your son to have thal intermedia.  I think the reason your doctor gave you the diagnosis of thal intermedia was because of the Hb level being so low.  That having been said, he may be a thal minor with symptoms, a thal minor + another Hb variation or a silent gene, or he may very well be an intermedia if your wife is the silent gene carrier. 

That having been said, there are plenty of thal intermedias who lead normal healthy lives with little medical intervention, and some that require more.  That will have to be determined after your wife's analysis comes back...and with a watchful eye on your son's symptoms.  Thals can be very clever children...Our Hb levels and iron levels do not lead to any "slowness" mentally.  To answer some of your questions (to the best of my ability...) 

1) From what I have told you about my son, do you think he will lead a normal life? (My son has no abnormalities of any sort at all. He is a very active and clever child and he does not keep falling ill) I think your son may very well lead a "normal" life...He may just need blood transfusions and/or chelation therapy after so many transfusions...
2) Can taking Wheatgrass increase his hemoglobin levels? My son is currently taking Folic  acid but would Vitamin A help too?

Folic Acid, Vitamin A, B12, and Vitamin C are all VERY important to Thals, but for different reasons at different levels.  For instance, in my case, I also have Iron Deficiency Anemia, which I need to take Vitamin C for in order to absorb more iron, which I take in CHELATED form.  For a Thal Major, buildup of iron overtime in the organs is a problem due to transfusions, so some are advised to stay away from Vitamin C.  Its a case by case basis for most Minors with symptoms and some Intermedias.  Andy is a VERY wise instructor on that wheatgrass bit, tho.  I just can't stomach the stuff.  :-X

3) My sons hemoglobin level is 8 at the moment, do you think this will increase with age? but obviously stay below a normal adult level?  With intermedias, it is a measure case by case...Many intermedias do not need to transfuse until later in life.  His Hb may go up with transfusion therapy and other alternative methods, but if it goes down again, he will need more transfusions to bring it up to the "normal" range.
 
4) Can I take my son for a private Bone marrow transplant some where in the world and get this problem cured? or Can I take him somewhere for a gene therapy?  I'm not sure if it's recommended that intermedias undertake the grueling process of a bone marrow transplant or gene therapy (gene therapy at the moment is very unsuccessful and prohibitively expensive...)  Bone marrow transX might be in my future, but its extremely RARE for minors and intermedias I'm pretty sure.  I wouldn't wish it unless it was my last gamble.  You must "kill" all of the persons own marrow before beginning the transplant, which can lead to very severe complications and possibility of infection.  KHALIFA's son Abdulwahab had a BMT and it was successful, but not without its harrowing moments...KHALIFA, if you're around...Please!! Help!! LOL 

5)Are there people where they have this sort of Beta intermidia and they can lead normal life? without any bone changes??  SURE!! With proper medical management...Which is sometimes VERY hard to find! Where do you live? There may be a Thalassemia center or Doctor we could recommend to you?

Regards,
Courtenay

Hello Manoj

Welcome to the site . I am sure you will benefit a lot from it.

Actually your story is exactly like mine, but the only difference is that i didn't know that i had a trait. My husand ( probably will be the same for your wife ) had a silent gene that does not appear in any blood test except in the DNA test, so i guess that your wife might have a silent one too.

My son is 4.5 years was diagnoised by coincedence, active, his HB is 6.5, never transfused, has no bone deformations, normal ferritin , a little bit enlarged spleen and liver. He is taking folic acid and supplements in addition to resveratrol ( dietry supplement that could increase fetal Hb and is taken as a trail by my son).

Although both our sons have the same case and symptoms, this does not gurantee that it willl continue like this because thalassemia has a wide range. It is never black or white, but ther are many shades in between even for the same diagnosis.

Anyway, i will try to answer some of your questions in order to my knowledge:

1) Leading a normal life, depends on the severity of the disease. Many intermedias were diagnoised in their teenage or may be later and others need transfusions every now and then according to their needs. But as i read her in many posts, intermedias may need to transfuse at some point in their lives. For me i am trying to search for some HB inducers rather than transfusion such as resveratrol which i am trying now, there are some studies using butyrate componds or may be at the end hydroxyurea ( a medicine taken that increases HB in intermedias and is taken by some of the members here).

2) Some studies said that wheatgrass may help in increasing the fetal HB and others deny it. But the people who reacted negatively to it claimed thati t increase their energy and made them feel healthier although itdidn't increase the HB.
Regarding the supplements, folic acid is very important in addition to multivitamin WITHOUT IRON OR VITAMIN C , calcium with vitamin D and B12. My son too takes L-Carnitine as it is very good for the heart which is exerting much effort as a result of having low HB. Also vitamin E is very important . You will find a post discussing all the important supplements and their usage.

3) I guess that i  can not answer this cause i am not a doctor, but the logic says that the opposite might happen because your son will be getting older and his needs will increase. The ability to maintain Hb 8 or decrease than this level will be answered through monitering him through scheduled blood tests. I guess no body can tell.

4)Like you i wanted so much to go through bone marrow transplant, but it is not that easy. Of course you should have first a 100%matched donor ( sibling are the best).  Transplant may have severe side effects that may be fatal. So it is not an easy decesion to take. I had a consultation from a doctor about transplanting for intermedias and she had many points to consider before choosing this option ( i can send you her point of view in a private message if you want ).
Concerning the gene therapy, it is still under clinical studies and not availabe yet, but i guess this is the hope we are waiting for and i pray that it will be fulfiled soon.

5)Bone defomation is a result of the low Hb. The bone marrow is trying to work harder to companste for this low HB, in doing this it enlarges inside the bone cavities and thus makes bones brittle and deformed,that is why taking calcium is very important. So if you increase the HB no deformation will happen. Hb will increase either through normal/chemical HB inducers (might not work ) or blood transfusions. Sometimes you can find patients with the same diagnosis and same HB levels, one has deformation and the other doesn't so it is again no two are alike in thalassemia.

Hope you find any useful information in my reply. My advice to you is to read as much as you can in this site because you will learn what you should ask the doctor about. Also i had wrote many posts discussing all these points that you have mentioned and had precious answers from the members here that i am sure will benefit you a lot.

Please don't hesitat to ask what ever you like

Take care
Manal

Thank you Courtenay and Manal.
Since I am still waiting for my wife's DNA results. Does this mean there may still be good news that My son can be a Thal Minor?? but with low Hb.

Courtenay..as you said "That having been said, he may be a thal minor with symptoms, a thal minor + another Hb variation or a silent gene, or he may very well be an intermedia if your wife is the silent gene carrier". If my son was to be a thal minor then does this mean he would avoid all the possible complications of Thal intermidia??

I live in England and here we have verygood medical care. Therefore I believe that my son will be under constant watch. So does this mean that My son can lead a good life with a few or none blood transfusions and that if his bone structure did start to change that there are drugs that the doctor can give him to boost his Hb and this can make him lead a near enough normal life?

Does anyone think that there is a future cure by gene therapy? and how soon?
Is BMT very risky? and what is the success rate?

Sorry for so many silly questions.

Best Regards.
Manoj

Welcome Manoj to the site,

Your case is similar to Manal's as well as another Indian origin family who have a Thal(Intermedia) son and is on Hydroxyurea.

I have a Beta Thelesimia trait and before we had any children my wife was told that she does not have any traits at all. Since my son has been diagnosed they are doing more blood tests on my wife to see what she has. We are currently waiting for my wife's DNA test.

This is so frustating. So many of Thals are running in situations where the silent gene does NOT show up in the primary Thal testing and end up risking having a Thal(Intermedia) child. I think it is about time - that we start doing DNA tests for those couples who know there is 1 Thal(Trait) of the 2. I know DNA tests is not affordable everywhere, but I think for those that can afford, they should go for it. Members, what do you say?

As Manal and Courtney have mentioned, Thal(Intermedia) varies for each. I know atleast 1 girl who was diagonised after marriage to be Thal(Intermedia), but has been living a normal life without transfusion and also had a child and as Manal and you mention, your childs were diagonised earlier in their childhood.

Manish --> I have looked into the BMT option for my niece too. She is a Thal(Major) in India and I met one of the best doctor's in India(Dr Mammen Chandy). Bone Marrow Transplant is a very risky procedure and i have even seen some Thal(Major)s decide against going for the transplant as the risks over-weighed the benifits. It all depends on the case, so there cannot be any Yes or No as an answer. You son can lead a very very normal life. You are lucky that he was born in this day and age where medical advancement have been happening all around, plus you are in a country which has good medical treatments, so you are good. Another thing is to stay positive. Take this as a challenge (I know it is NOT easy and easier said than done, but what can we change by worrying ?? - Nothing). Learn as much as you can and try to provide the best treatment or management for his health.

HI Manoj and welcome to the group,

I don't think you will find many doctors who would advise a BMT for a non-transfusing intermedia, especially one with an Hb level high enough to have a relatively normal life. The risks would far outweigh the benefits. Gene therapy has only recently begun trials on humans, but if it does prove to be a success, it would offer much hope to thal patients everywhere. Gene therapy has been successful in animal trials, so there is much hope that it will also work in humans. Patience is in order as the trials continue.

For your child, it is very important to maintain a good program of diet, supplementation and exercise, in order to maximize his physical potential. Please read our thread at

http://www.thalassemiapatientsandfriends.com/index.php?topic=118.0

Wheatgrass was shown to be effective at raising fetal hemoglobin levels in some thal patients in a 2004 study. Since wheatgrass juice is somewhat unpalatable I suggest the use of wheatgrass tablets, capsules or extract. As has been said, even patients who show no increase in HbF often show increased energy levels and better health overall.

Your son's Hb may drop some as he ages but I think following a good health program can counter this to some extent. Many intermedias have needed transfusions in adulthood but your son's Hb is fairly good and he may be able to avoid this.

Narendra is correct is stating that DNA testing should be done. And I would like to add that the health care systems need to take a long look at the cost of testing compared to the long term costs of caring for thal majors. The cost may not seem so high in this context.

Thank you Narendra and Andy.
You made me feel a bit better.
My son currently looks 100%. No problems with apetite, or energy

If I look after my son as well as I can with regards to his diet and exercise do you think that he will lead a normal enough life??

If his Hemoglobin level stays around 8 as he grows up will this cause bone deformities? I just want to avoid this and is there anything I can ask my doctor to do?? Like is there any medication that can boost his hemoglobin and also supress the bonemarrow??or is this something the doctor will do if they detect any changes??

I am in contact with Chris Reynold (wheatgrass) and he has suggested that I get my son to take Wheatgrass supershot. I will definately be getting this.

My son's hemotologist said that I don't need to avoid breakfast cereals that contain iron as they wont do any harm to my son. Is this correct and should I avoid them?


Are there any cases like my son who have lived a happy, normal life without any bone deformities?

I just hope that whilst everyone on this site are helathy a cure by gene therapy is found.

Thanks and Regards.
Manoj

Manoj,

Dr Reynold's products are very high quality and I recommend them. I am not thal but I use the wheatgrass extract daily.

I have to strongly disagree with your doctor about iron. Thal intermedias often have a serious problem with excess iron absorption in the gut and a low iron diet is indicated. Iron is absorbed at a higher rate than normal from food as the body tries to build more red blood cells. Regular monitoring of serum ferritin levels should be followed with thal intermedia. The iron problem can become serious enough to require chelation in some patients so the iron status should be watched.

I do feel your son can lead a normal life. The Hb level is good for an intermedia and no one will suggest transfusion as long as he maintains this level. I don't think you will see deformities at this Hb level.

Here is a reference to a similar case, where the initial tests did NOT show both partners having some form of trait

http://www.thalassemiapatientsandfriends.com/index.php?topic=92.0

I have a Beta Thelesimia trait and before we had any children my wife was told that she does not have any traits at all

Manoj --> What tests did they run on your wife?? Could you share with us?

Hi Manoj,
     I am 55 years old and have thal intermedia. As far as I know, my hemoglobin was never over 9 while I was growing up, and when I was in my 20's, it started getting lower, around 7 and 8. I had a normal chldhood, although I was sick often, and I don't have any noticeable bone deformities. In fact, I didn't even get diagnosed with thal until I was in my 20's.
     My hemoglobin dropped to the 6 -7 range when I was in my 30's and 40's, and I eventually had to have my gall bladder and spleen out. In many intermedias with a lower hemoglobin, the spleen gets enlarged from overworking, which causes the hemoglobin level to drop. After getting the spleen out, sometimes the hemoglobin level will go up somewhat. I eventually ended up having to start monthly transfusions at age 51. Transfusions have enabled me to be much healthier and have more energy.
     I have lived a very good life. I am married and have 2 wonderful children who we adopted, and have been a teacher for 30 years. Yes, I have had some health issues to deal with, but so do many people, and some people have unbelievable challenges they face that make mine seem like nothing.  I think the prospects for your child's future are very good. New research in genetics will hopefully see a cure for thal in your child's lifetime. At least you know what you are dealing with, and have some information about it.
     I also feel that you should try to avoid giving your son food with high levels of iron. Breakfast cereals usually have lots of added iron. You can find some cereals that don't have added iron.
     Good luck with everything. We are here to support you, and we will try to answer any questions that you have. Take care, Jean 

If your wife's DNA results come back that she has no traits or Hb mutations, your child may be a minor, but a minor with a Hb level of that is very rare.  When my Hb gets that low, I'm in BIG trouble...Also because I have iron deficiency anemia.  Its so tough to get my iron up to an acceptable level for a thal, but not too much.  My daughter has been on Enfamil "No Iron" since she was 3 months old to make sure she had no adverse effects...The iron made her CRANKY and bound her to high heavens.

If your son is a minor, it is very hard to say whether or not he will "have the complications" of an intermedia.  I have some intermedia complications.  I had my spleen out 2 or so weeks ago because it was so big. Its really, truly...a case by case basis.

I am so glad your son is under constant watch of good medical care.  However, your son's pediatrician's request that he still eat iron fortified cereal bothers me.  Kids eat a lot of cereal, and differ their "doses" depending on how hungry they are each day.  It is extremely hard to monitor his iron intake this way, especially when one cup of some fortified cereals here in the US have 25-100% of daily iron needs for NON-thal folks.  If your doctor is worried about your son's LOW iron level, he may need CHELATED iron supplements.  This sort of iron is not "heavy" and does not build up in the organs so much.  BUT, I wouldn't even go this route until you're sure as to what your son's genetic makeup is.  If he's a true intermedia, even chelated iron supplements can be very detrimental.

All our love for your little one,
Courtenay

I thank you all for your replies. I feel much better and I am not worried as much and I hope Gene therapy comes along with a cure.

I will take all this info to my Hematologist.

Where can I find information on Gene Therepy trials and are there any contact numbers??


I will even try and find cereal that does not contain iron.

My son loves eating oranges and sometimes he will eat 3 to 4 oranges in a day. Should I avoid this because of Vitamin C??

Best Regards and Big Thank you
Manoj

Hi Manoj,

All your questions can be answered depending on the results of regular blood tests. If your son's Hb maintains a level (give or take a few points after the decimal) then you should not worry for bone deformations and blood transfusions. However it is wise to keep Hb well above 10g/dl to ensure proper growth and development but for Intermedias if the Hb is stable then the drawback of transfusions (Iron overload) outweigh the benefit if the child's growth is going on smoothly.

One more thing like Mr. Andy pointed out along the tests, that you should also monitor your son's Serum Ferritin too. This will answer your cereal question too. If the SF is too low then it is probably that your child may be suffering from Iron Deficient Anemia and there is no harm in giving Iron enriched cereals in this case; however, if the SF is getting high, then it is probable that your son is absorbing more Iron from diet already and you should avoid such cereals and Vitamin C (before/during meals).

Take care, Peace!

Thank you all.
Best wishes.
Manoj

Hi Manoj,
I'm 31 years old and I have thal intermedia. My thal was detected at the age of 10. During my childhood my Hb used to be between 9-10, but now it has dropped to 8. I did not have any major health issues during childhood other than getting sick easily. But I guess, that's true with many other non thal kids too.
I have a enlarged spleen and I'm currently thinking of splenectomy. Also, I don't have any bone deformities so far. Once I had a nasty viral infection and that was the only time when I got transfused.
Hope it gives you some comfort in beliveing that thal intermedia can live a normal life.

Please don't hesitate to share your concerns with us.

Wish you all the luck,
Hallu