How to diagnose thalassemia major and when to start transfusions?
Thalassemia major patients are usually brought to the physician in the second half of infancy with complaints of decreased activity, increasing pallor of body and abdominal fullness. Examination reveals anemia and hepatosplenomegaly. High hemoglobin F (HbF) level on Hb electrophoresis or high performance liquid chromatography (HPLC, Biorad VariantTM, Biorad Laboratories, Hercules, CA) establishes the diagnosis. Transfusions are indicated when hemoglobin is >7 g/dL. 2. What is the optimum hemoglobin level? The Hb level is kept between 9-10 g/dL with transfusions given at intervals of 2-4 weeks. Lower hemoglobin levels may impair proper growth. Higher hemoglobin levels (>14 g/dL) may carry the risk of thrombotic complications and need more aggressive chelation therapy. In presence of Hb <5 g/dL or in presence of congestive heart failure, packed red blood cells (PRBC) amount is given in aliquots, 5 mL/kg at one sitting with diuretic use. 3. In older child, can 3 units of blood be given at
