talasèmies

Thalassemia is a group of inherited blood disorders that affect hemoglobin production. Hemoglobin is a protein in red blood cells that carries oxygen throughout the body. When hemoglobin is not produced correctly, red blood cells are destroyed, leading to anemia.

There are two main types of thalassemia: alpha-thalassemia and beta-thalassemia, named after the two protein chains that make up hemoglobin. The severity of thalassemia depends on which type is inherited and how many gene mutations are present. Minor thalassemia, also known as thalassemia trait, is usually asymptomatic and does not require treatment. However, it can be passed on to children. Intermedia thalassemia can cause moderate anemia and may require blood transfusions. Major thalassemia is the most severe form and can lead to life-threatening anemia, requiring regular blood transfusions and other medical interventions.

Thalassemia is more common in people of Mediterranean, South Asian, Southeast Asian, and African descent. Diagnosis is typically made through a blood test that measures hemoglobin levels and red blood cell size. Genetic counseling is important for individuals and families affected by thalassemia to understand the inheritance patterns and risks. There is no cure for thalassemia, but treatments focus on managing symptoms, such as blood transfusions to increase hemoglobin levels and iron chelation therapy to remove excess iron from the body. Bone marrow transplantation is a potential cure but is associated with significant risks.