What is the difference between thalassemia major and Hb E Beta thalassemia

I am Hb E beta thal, whose Hb never rose to more than 6 gms. Have to be regular transfusion, chelation. On hydroxyurea, anti-osteoporosis drugs, Vitamin D, calcium etc etc. Just wanted to know, how is it different from thalassemia major?

Rashmi,

HbE beta thal can result in transfusion dependence when the beta gene is a zero mutation. However, the Hb level will usually fall in the intermedia level of 6-8, rather than the major level of below 4. When you have to transfuse regularly, there isn't much if any difference as far as treatment is concerned, but if you were to quit transfusing, you could probably survive (with severely bad health) whereas a major would not survive without transfusion. Those with HbE beta thal also often respond to fetal hemoglobin inducers. If your Hb was a bit higher, it might be possible to try hydroxyurea to raise your HbF level, but since your Hb drops so low without transfusion, hydroxyurea might not be of much value to you. It might be worth talking to your doctor about the subject of hydroxyurea to see if your doctor thinks it could help.

Rashmi,

HbE beta thal can result in transfusion dependence when the beta gene is a zero mutation. However, the Hb level will usually fall in the intermedia level of 6-8, rather than the major level of below 4. When you have to transfuse regularly, there isn't much if any difference as far as treatment is concerned, but if you were to quit transfusing, you could probably survive (with severely bad health) whereas a major would not survive without transfusion. Those with HbE beta thal also often respond to fetal hemoglobin inducers. If your Hb was a bit higher, it might be possible to try hydroxyurea to raise your HbF level, but since your Hb drops so low without transfusion, hydroxyurea might not be of much value to you. It might be worth talking to your doctor about the subject of hydroxyurea to see if your doctor thinks it could help.

Hydroxy was given in 2002 for Hb but results were not positive hence discontinued but was started again last year for em erythopoesis. my back is so bad that I may have to go for a surgery, if necessary. Will be reviewed in July by my specialist, Dr. Mammen Chandy.