Haemoglobinaemia

Haemoglobinaemia refers to the presence of abnormal haemoglobin molecules in red blood cells. Haemoglobin is the protein responsible for carrying oxygen from the lungs to the body's tissues. Various genetic mutations can lead to the production of altered haemoglobin chains, resulting in different types of haemoglobinopathies. The most common 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 haemoglobin S. This abnormal haemoglobin can cause red blood cells to become rigid and sickle-shaped, especially under low oxygen conditions. These sickle-shaped cells can block blood flow, leading to pain, organ damage, and anaemia. Thalassaemia, on the other hand, is characterized by reduced or absent synthesis of globin chains, either alpha or beta. This imbalance in chain production leads to ineffective red blood cell production and premature destruction of red blood cells, resulting in anaemia.

The diagnosis of haemoglobinaemia typically involves blood tests such as a complete blood count and haemoglobin electrophoresis, which can identify the specific type of abnormal haemoglobin present. Genetic testing can also be used to confirm the diagnosis and assess the risk of passing on the condition. Treatment varies depending on the specific haemoglobinopathy and its severity. For some conditions, treatments may include blood transfusions, iron chelation therapy, or bone marrow transplantation. Research into gene therapy holds promise for future treatments.