AT12

AT12, also known as Alpha Thalassemia 12, is a genetic disorder that affects the production of hemoglobin, the protein in red blood cells that carries oxygen. It is a form of alpha thalassemia, a group of genetic disorders characterized by reduced production of alpha globin chains, which are essential components of hemoglobin. AT12 is caused by a specific mutation in the HBA1 gene, which encodes the alpha globin chain.

The HBA1 gene is located on chromosome 16, and the mutation in AT12 results in the production of a non-functional alpha globin chain. This leads to an imbalance between alpha and beta globin chains, causing the formation of unstable hemoglobin tetramers and the destruction of red blood cells. This process, known as hemolysis, can result in anemia, fatigue, and other symptoms.

AT12 is typically diagnosed through genetic testing, which can identify the specific mutation in the HBA1 gene. There is currently no cure for AT12, but treatment options include blood transfusions, iron chelation therapy, and, in some cases, hematopoietic stem cell transplantation. Regular monitoring and management of symptoms are also important aspects of living with AT12.

AT12 is relatively rare, affecting an estimated 1 in 100,000 to 1 in 200,000 individuals worldwide. It is more commonly found in populations of Mediterranean, Middle Eastern, and South Asian descent. The disorder can have a significant impact on an individual's quality of life, but with proper management and support, many people with AT12 can lead healthy and productive lives.