thalassaemia

Thalassaemia is a group of genetic disorders that affect the production of hemoglobin, a protein in red blood cells that carries oxygen to the body's tissues. The disorder results from mutations in the genes that code for hemoglobin, leading to the production of abnormal hemoglobin or a lack of the protein altogether. This can cause a variety of health problems, including anemia, fatigue, and enlargement of the spleen.

There are several forms of thalassaemia, classified based on the severity of the condition and the extent of hemoglobin production. The most common forms are thalassemia major, also known as Cooley's anemia, and thalassemia minor, also known as beta-thalassemia trait. Thalassemia major is the most severe form, and those affected may require regular blood transfusions to maintain a stable level of red blood cells.

Thalassemia is usually inherited, passed from parents to offspring through autosomal recessive genes. In populations of Mediterranean, Middle Eastern, and Southeast Asian origin, thalassaemia is relatively common due to the high frequency of the mutated genes. The disorder is the result of particular mutations in the beta-globin gene and the alpha-globin genes.

Treatment and management of thalassaemia typically involve regular blood transfusions, iron chelation therapy to prevent iron overload, and rest and relaxation to conserve energy. For severe cases, consideration is given to bone marrow transplantation, although this treatment is not without risk and only successful in some cases.