talassemia

Talassemia is a group of inherited blood disorders characterized by the body's inability to produce adequate hemoglobin, the protein in red blood cells responsible for oxygen transportation. This condition leads to anemia, which can vary from mild to severe, depending on the type and severity of the disorder.

There are several types of talassemia, primarily divided into alpha and beta hems: alpha talassemia results from mutations affecting the alpha globin gene, while beta talassemia involves mutations in the beta globin gene. The severity of symptoms often correlates with the specific genetic mutations, with some individuals experiencing minimal symptoms and others requiring regular blood transfusions.

Common symptoms include fatigue, weakness, pale or jaundiced skin, facial bone deformities, and delayed growth and development in children. In severe cases, complications such as iron overload, due to frequent transfusions, can occur, leading to damage in organs like the heart and liver.

Diagnosis usually involves blood tests such as complete blood counts (CBC), hemoglobin electrophoresis, and genetic testing. Management depends on the severity of the disease and may include regular blood transfusions, iron chelation therapy to remove excess iron, and bone marrow transplantation in certain cases.

While talassemia is a lifelong condition, advancements in medical care have significantly improved life expectancy and quality of life for affected individuals. Preventative measures such as genetic counseling and screening are vital in reducing the incidence of inherited cases of talassemia in high-prevalence areas.