β-Thalassemia
Definition
Absence or reduced production of β-globin gene leading to anemia.
Signs & Symptoms
Severe anemia in major cases become apparent at 3 – 6 months of life. Hepatosplenomegaly, thalassemia facies and cortex bone thinning. Iron overload leafing to stunted growth, heart and renal failure, recurrent infections.
Risk Factors
Most prevalent monogenic disorders worldwide which is about 7% of the world population.
Causes
Mainly autosomal recessive inheritance. More than 200 mutations have been found on the β-globin gene. Decreased or absence of the β-globin gene causes precipitation of excess α-globin gene leading to ineffective erythropoiesis.
Peripheral blood characteristics
Severe hypochromic microcytic anemia with increased reticulocyte count, normoblasts and target cells.
Bone marrow characteristics
Severe hypochromic microcytic anemia with increased reticulocyte count, normoblasts and target cells.
Important investigations & related results
Hemoglobin electrophoresis shows absence or faint HbA with HbF as the predominant subtype. Similarly for HPLC.
Treatment & management
Regular blood transfusion, iron chelation therapy, vitamin C, splenectomy, endocrine therapy and bone marrow transplantation.
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