Thalassemia is a group of inherited blood disorders characterized by the body's inability to produce normal hemoglobin, the protein in red blood cells that carries oxygen. This condition leads to anemia, which can range from mild to severe and often appears in childhood. Thalassemia is caused by mutations in the genes responsible for hemoglobin production, resulting in reduced or absent synthesis of one of the globin chains that make up hemoglobin. This imbalance causes the red blood cells to be less stable and prone to destruction, leading to various health issues.
The severity of thalassemia depends on the specific type and number of gene mutations. Major forms like beta-thalassemia major (Cooley's anemia) require regular blood transfusions and can lead to iron overload and damage to vital organs. Alpha-thalassemia, which affects the alpha globin chain, can also have serious health implications, including hydrops fetalis, a condition that can be fatal to the fetus.
Patients with thalassemia may require lifelong treatment and management, including blood transfusions, iron chelation therapy to remove excess iron from the body, and sometimes bone marrow transplants. Advances in gene therapy are also being researched as a potential cure. Early diagnosis and regular medical care allow many individuals with thalassemia to live full lives, although they may face challenges related to the disease and its treatment.