Hematology/Haematology - Anemia/Anaemia: Thalassemia/Thalassaemia
Background
Hematology/Haematology - Anemia/Anaemia: Hemoglobinopathies - Thalassemia/Thalassaemia and Sickle Cell Disease Background
Disease Etiology
Sickle cell disease and thalassemias are hemoglobinopathies or anemias caused by genetic mutations (1).
Thalassemias are inherited microcytic (cells are small in size), hemolytic (cells are ruptured/destroyed) anemias. Adult hemoglobin (Hb) molecules include four globin chains (2). Thalassemia is caused by a reduced production of at least one globin peptide chain (beta, alpha, gamma, delta). The excess unpaired globin chains lead to hemolysis and impaired erythropoiesis. The