Thalassemia major or intermedia

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?

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

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.

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

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