Discussion Forums > Thalassemia Major
E/Beta Thalassemia
Md. Abdul Hakim:
Hi friends. I am from Bangladesh, and new to this forum.
Very recent my 18 moth baby (girl) falls sick ( Fever and cold) my doctor suggest me to test CBC test. In this test her Hb found 8.3g/dl. then the doctor suggest me to test Hb electrophoresis. We just knew that she is patient with HBE Beta Thalassemia. my doctor said to us we have to start transfusion. Although she is fully active . No symptoms are visible. I am providing below his blood report .
Hb electrophoresis
Hb A = 5%
Hb F =49.4%
HB E= 42.1%
Hb A2 = 3.5%
Hb 8.3 g/dl
RBC 4.17 mill/cumm
MCV 59.7fl
mchh 19.2pg
rdw 27.9%
WBC 11950/Cmm
Platelate 411000/Cmm
Ferritin 171.71 ng/ml
S Billirubin 1.1mg/dl
1. Is he Thalassemia Major or Intermedia?
2. Is it essential to required transfusion ?
3. Can she lead normal life?
4. Have any natural treatment to increase HB level but without having iron.
Please give me some advice. She is our only kid, we are now feeling helpless and her mother has sick to know it.
Since He is our only kid, we are now feeling helpless.
Regards,
Md. Abdul Hakim
Andy Battaglia:
It may be premature to recommend transfusion. The presence of some HbA in the electrophoresis shows that the beta thal is a beta+. If it was a beta zero mutation, there would be no HbA observed. Because it is beta+ and the child's Hb is still above the 7-8 range, transfusion would be optional at this age, unless it is demonstrated that growth and development are seriously affected. She may have a more intermedia than major condition, and time will tell, but right now, I wouldn't agree that transfusion is necessary. Because HbE beta thal manifests at different ages in different patients, it is often best to wait and see if it stays as it is now, or if the Hb continues to drop lower.
I would suggest that you give her L-methylfolate (not folic acid) and that you encourage a healthy diet, with fresh fruits and vegetables, especially green vegetables. Have her Hb checked periodically to see if it is stable. If it does continue to drop, the question of transfusion can be revisited. There can be differences between depending on the specific beta+ mutation, so I would say at this young age, it can't be predicted how it will go. A DNA analysis that tells you the specific mutation may help, but for now, as long as she is healthy, I would not suggest transfusion.
Either way, she can lead a normal life. If she does eventually require transfusion, she may be able to use a new drug, Luspatercept that should be available in the next two years. This drug increases Hb level and will most likely free many intermedia patients from transfusions. This should become available within the next two years and will have the ability to affect treatment for most patients who require transfusions.
And, transfusing patients already do lead normal lives. Compliance with the transfusion/chelation routine is required for transfusing patients, but this does enable them to go about normal lives.
Md. Abdul Hakim:
Thanks Andy Sir.
You are great. You are an Angel of many thal family.
A.Hakim
Md. Abdul Hakim:
Dear Andy
could you tell me please what is the doses of L-methylfolate?
Md. Abdul Hakim
Andy Battaglia:
At this young age, 200-400 mcg of Folate would suffice.
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