betathalassæmia

Betathalassaemia is a hereditary blood disorder characterized by reduced or absent synthesis of beta-globin chains, which are essential components of hemoglobin. Hemoglobin is responsible for carrying oxygen from the lungs to the rest of the body. When beta-globin production is insufficient, the body cannot produce enough functional hemoglobin, leading to a chronic shortage of red blood cells, a condition known as anemia.

The severity of betathalassaemia varies widely depending on the specific genetic mutation and the number of affected beta-globin genes. Betathalassaemia major, the most severe form, typically manifests in infancy with profound anemia, requiring lifelong blood transfusions. Betathalassaemia intermedia is a less severe form, often requiring transfusions less frequently. Betathalassaemia minor, also known as the carrier state, usually presents with mild or no symptoms but can pass the gene mutation to offspring.

Diagnosis is typically made through blood tests that measure hemoglobin levels and red blood cell characteristics, followed by genetic testing to identify specific mutations. Treatment for betathalassaemia major primarily involves regular blood transfusions to maintain adequate hemoglobin levels and chelation therapy to remove excess iron that accumulates from transfusions. Bone marrow transplantation is a potential cure but carries significant risks. For milder forms, management focuses on monitoring and supportive care. Genetic counseling is crucial for individuals with betathalassaemia to understand the inheritance patterns and reproductive implications.