Alternative Names & Classifications:
Beta Thalassemia (CLINICAL), Thalassemia (CLINICAL)
Description
Beta thalassemia is caused by mutations in the HBB gene, which provides instructions for making beta-globin, a component of hemoglobin. The reduced production of hemoglobin causes red blood cells to be unusually small and easily destroyed, leading to chronic anemia. It is most commonly found in populations of Mediterranean, African, and Southeast Asian descent.