Is my daughter suffering from thalassaemia?

Q: My five years old daughter was suffering from frequent fever for 10 months (about 10 times). The fever lasted for only 1-2 days. Last year, her haemoglobin (Hb) level was 8.4 gm% and the doctor told us that she has an enlarged spleen. She underwent Hb electrophoresis and HPLC and the results showed - HbA - 7.1%, HbA2/E - 81.4%, Hb F - 10.1%, unknown peak - 1.4%. What does it mean? The doctor has prescribed folic acid and has advised my wife and me to undergo the same test. Is she suffering from thalassaemia?

A:Your daughter is suffering from E/beta thalassaemia, which is a form of hemoglobinopathy. This disease clinically behaves as thalassaemia intermedia where haemoglobin is in the range of 8-11 g/dl but there is significant enlargement of liver and spleen. It is often complicated by jaundice due to gall stones, growth retardation, and sometimes transfusion dependency (especially during periods of stress).

The treatment includes regular folic acid supplementation and blood transfusion, if required. One may benefit from splenectomy if hypersplenism sets in. If the growth retardation is significant, one should consider allogenic bone marrow transplant if an HLA identical donor is available.