The spectrum of clinical manifestations of Beta-Thalassemia varies widely. One end of the spectrum is the serious homozygous form (Thalassemia Major) that presents in early infancy (6-18 months) with progressive pallor, splenohepatomegaly and bony changes and if left untreated, is invariably fatal during the first few years of life; and the other end of the spectrum is a heterozyous form (thalassemia minor) in which the patient can lead a practically normal life except for a mild persistent anemia and have a normal life span. In between these two extremes are forms with varying degrees of clinical manifestations of anemia, splenohepatomegaly and bony changes who maintain their life fairly comfortably and are not dependent on blood transfusion for their survival and are called thalassemia intermedia and are also homozygous.

Diagnosis :

• CBC is frequently sufficient to postulate a diagnosis of thalassemia. Peripheral blood smears are diagnostic, with microcytic, hypochromic, poikilocytic, and polychromatic red cells. There is also moderate basophilic stippling with fragmented erythrocytes, target cells and large number of normoblasts and reticulocytes ranges from 2-4%.
• Osmotic fragility reveals reduced fragility.
• Bone marrow examination though not required for diagnosis, shows normoblastic erythroid hyperplasia.
• Hb electrophoresis is diagnostic. Fetal hemoglobin is increased in the patient and HbA2 is over 3.4% in both parents.
• Radiological findings include widening of medulla due to bone marrow hyperplasia, thinning of cortex and trabeculation in the long bones-metacarpals and metatarsals. Skull X-ray shows hair on end appearance.
• Periodic tests for organ dysfunctions is necessary which includes SGOT, SGPT, GGT, Sr.Bilirubin, Sr. Calcium, Sr. Creatinine, etc.
  

Management of thalassemic child consists of :

• Confirmation of diagnosis
• Correction of the anemia with repeated RBCs transfusions.
• Removal of iron with iron chelating agents.
• Treatment of complications
• Correction of hemopoiesis by bone marrow transplantation.
• Prevention of the disease by antenatal diagnosis and genetic counselling.
• Pharmacological methods to increase gamma-chain synthesis.
• Gene replacement therapy.
  

Management of thalassemia major should be preferably done at a comprehensive thalassemia care center with outdoor transfusion facilities. A team approach includes a pediatric hematologist, a blood transfusion specialist, a psychologist and a social worker etc. This not only helps the patient and the family to face various medical and psychosocial problems, but also helps in early detection and management of complications.