Haemoglobinopathy

Haemoglobinopathy is a group of inherited blood disorders characterized by abnormalities in the structure or production of haemoglobin, the protein in red blood cells responsible for carrying oxygen. These conditions arise from genetic mutations affecting the globin chains, which are components of the haemoglobin molecule. The most common types of haemoglobinopathies include sickle cell disease and thalassaemia.

Sickle cell disease is caused by a mutation in the gene for the beta-globin chain, leading to the production of abnormal haemoglobin S. This abnormal haemoglobin can cause red blood cells to become rigid and sickle-shaped, especially under low-oxygen conditions. These sickled cells can block blood flow, leading to pain, organ damage, and anaemia. Thalassaemia, on the other hand, involves reduced or absent production of one or more globin chains, resulting in an imbalance of haemoglobin components and ineffective red blood cell production. This leads to varying degrees of anaemia, depending on the severity of the deficiency.

Diagnosis of haemoglobinopathies typically involves blood tests such as a complete blood count and haemoglobin electrophoresis, which can identify the specific type and severity of the abnormality. Genetic testing can also be used for confirmation and carrier screening. Management strategies vary depending on the type and severity of the condition, and may include blood transfusions, medications to manage symptoms, and in some cases, bone marrow transplantation. Research into new therapies, including gene therapy, is ongoing.