Hemoglobinopathies

Hemoglobinopathies are genetic diseases caused by abnormal structure or production of hemoglobin, a molecule in red blood cells that carries oxygen to tissues.

Out of the over 300 structural defects in hemoglobin already recorded in literature, sickle cell disease is the most well-known hemoglobinopathy. Decreased and defective hemoglobin-chain production is called thalassemia, which can fall into two categories according to the affected chain, namely alpha- and beta-thalassemia.

Any adult human being’s hemoglobin (hemoglobin A) is a protein composed of two alpha chains and two beta chains, each codified by different genes. Mutation in one of these genes causes hemoglobinopathies that affect either molecule structure (structural hemoglobinopathy) or molecule production rate (thalassemia).