If you observe a child of thalassemia major you can identify the following clinical manifestations:
Anaemia with haemoglobin level of 3 to 8 gm per cent and hepatosplenomegaly, bone changes as a result of anoxia due to severe anaemia which presents with prominent cheeks, globular enlargement of the head, depressed bridge of the nose, mongoloid slant, protruding maxilla and a receding lower jaw with widely spaced teeth. Epicanthic folds near the medial aspect of the eyes are common. The child may have congestive heart failure.
Diagnostic evaluation includes laboratory estimation of foetal hemoglobin levels which shows a range of 50 and 90 per cent.
Blood film shows excess of reticulocytes and normoblasts with microcytic hypochromic anaemia. Serum iron studies indicate rise in serum iron and fall in iron binding capacity. Bone marrow test show hyper plastic and normoblastic marrow with excess of intracellular and extracellular haemosiderin (an insoluble form of iron stored in the tissues), and large number of normoblasts containing excess of haemosiderin in the bone marrow X-ray of the skeleton show widening of medullary cavity.