By Dr. Pinky Shah (Kale) Pediatric Hematologist and Oncologist M.D.(Pediatrics) Fellow of National Board (Pediatrics Haematology & Oncology) IAP Fellow ( Ped.Hematology & Oncology)

Beta Thalassemia syndromes are a group of hereditary disorders characterized by a genetic deficiency in the synthesis of beta-globin chains of hemoglobin resulting in anemia.In the homozygous state, beta Thalassemia (ie, Thalassemia major) causes severe, transfusion-dependent anemia. In the heterozygous state, the beta Thalassemia trait (ie, Thalassemia minor) causes mild to moderate microcytic anemia. Patients in whom the clinical severity of the disease lies between that of Thalassemia major and Thalassemia minor are categorized as having Thalassemia intermediate. Several different genotypes are associated with Thalassemia intermedia. Treatment of beta Thalassemia major • Transfusion therapy Long-term transfusion therapy • Transfusion therapy Long-term transfusion therapy (in those with transfusion dependent beta Thalassemia) is a treatment used to maintain hemoglobin levels at a target pre-transfusion hemoglobin level of 9-10.5 g/dL (11-12 g/dL in those with concomitant heart disease).To ensure quality blood transfusions, the packed red blood cells should be leucoreduced. By having leucoreduced blood bags, the patient is at a lower risk to develop adverse reactions by contaminated white cells and preventing alloimmunisation. These regular transfusions promote normal growth, physical activities and suppress bone marrow hyperactivity. This strategy treats the anemia and suppresses endogenous erythropoiesis so that extramedullary hematopoiesis and skeletal changes are suppressed. Patients receiving long-term transfusion therapy also require iron chelation. • Iron chelation therapy The prevention of iron overload protects patients from morbidity and mortality. Every unit of transfused blood contains 200–250 mg of iron and the body has no natural mechanism to remove excess iron.The primary aim is to bind and remove iron from the body. Iron chelation is a medical therapy that may prevent the complications of iron overload. The excess iron can be removed by iron chelators- deferoxamine, deferiprone and deferasirox • Hematopoietic stem cell transplantation Allogeneic hematopoietic transplantation may be curative in some patients with Thalassemia major. ☐ Prevention Beta Thalassemia is a hereditary disease allowing for a preventative treatment by carrier screening and prenatal diagnosis. It can be prevented if one parent has normal genes, giving rise to screenings that empower carriers to select partners with normal hemoglobin. Thalassemia carrier screening programs have educational programs in schools, armed forces, and through mass media as well as providing counseling to carriers and carrier couples. Screening has shown reduced burden of disease.