haemoglobinopathies

Haemoglobinopathies are a group of inherited blood disorders characterized by abnormalities in the structure or synthesis of haemoglobin, the protein in red blood cells responsible for oxygen transport. These conditions arise from genetic mutations affecting the globin chains, which are components of the haemoglobin molecule. The two main categories of haemoglobinopathies are structural haemoglobin variants, such as sickle cell disease, and the thalassemias, which involve reduced synthesis of globin chains.

Sickle cell disease is the most common structural haemoglobinopathy, caused by a mutation in the beta-globin gene leading to the production of haemoglobin S. Red blood cells containing haemoglobin S can deform into a sickle shape under low oxygen conditions, leading to blockages in blood vessels, pain, organ damage, and anaemia. Thalassemias are a heterogeneous group of disorders where the production of either alpha or beta globin chains is reduced or absent. This imbalance results in insufficient haemoglobin and a reduced number of functional red blood cells, causing anaemia.

Diagnosis typically involves blood tests, including a complete blood count and haemoglobin electrophoresis, which can identify specific haemoglobin variants or quantify globin chain production. Genetic testing can further confirm the diagnosis and identify carriers. Management strategies vary depending on the specific haemoglobinopathy and its severity, ranging from supportive care and blood transfusions to iron chelation therapy and, in some cases, bone marrow transplantation. Newborn screening programs play a crucial role in early detection and intervention for conditions like sickle cell disease.