alpha thalassemia

Alpha-thalassemia (α-thalassemia, α-thalassaemia) is an inherited blood disorder and a form of thalassemia. Thalassemias are a group of inherited blood conditions which result in the impaired production of hemoglobin, the molecule that carries oxygen in the blood. Symptoms depend on the extent to which hemoglobin is deficient, and include anemia, pallor, tiredness, enlargement of the spleen, iron overload, abnormal bone structure, jaundice, and gallstones. In severe cases death ensues, often in infancy, or death of the unborn fetus.

The disease is characterised by reduced production of the alpha-globin component of hemoglobin, caused by inherited mutations affecting the genes HBA1 and HBA2. This causes reduced levels of hemoglobin leading to anemia, while the accumulation of surplus beta-globin, the other structural component of hemoglobin, damages red blood cells and shortens their life. Diagnosis is by checking the medical history of near relatives, microscopic examination of blood smear, ferritin test, hemoglobin electrophoresis, and DNA sequencing.