Hämoglobinopathie

Hämoglobinopathie is a group of inherited blood disorders characterized by abnormalities in hemoglobin, the protein in red blood cells responsible for carrying oxygen. These disorders arise from genetic mutations affecting the structure or production of hemoglobin. The most common types include sickle cell disease and thalassemia.

Sickle cell disease is caused by a mutation in the gene for the beta-globin chain of hemoglobin, leading to the production of abnormal hemoglobin S. Under low-oxygen conditions, these hemoglobin molecules can form rigid, sickle-shaped red blood cells. These misshapen cells can block blood flow, causing pain, organ damage, and anemia. Thalassemia involves reduced or absent production of one or more hemoglobin chains, resulting in insufficient functional hemoglobin and severe anemia.

Diagnosis typically involves blood tests, such as a complete blood count and hemoglobin electrophoresis, which can identify abnormal hemoglobin types and levels. Genetic testing can further confirm specific mutations.

Management strategies vary depending on the specific hämoglobinopathie and its severity. Treatment may include blood transfusions, iron chelation therapy to remove excess iron from transfusions, pain management, and in some cases, bone marrow transplantation. Research continues to explore gene therapy and other novel treatments to address the underlying genetic causes of these conditions.