Cause 8. Hemoglobinopathies: Genetic Disorders Affecting Hemoglobin
Hemoglobinopathies are a group of genetic disorders that affect the structure or production of hemoglobin, the oxygen-carrying protein found in red blood cells. These disorders can lead to anemia due to the reduced ability of red blood cells to transport oxygen efficiently. Common hemoglobinopathies include sickle cell anemia, thalassemia, and hemoglobin C disease.
Sickle cell anemia is caused by a mutation in the HBB gene, responsible for producing the beta-globin chain of hemoglobin. This mutation leads to the formation of abnormal hemoglobin molecules, causing red blood cells to become rigid and sickle-shaped. These misshapen cells are less flexible and can become trapped in small blood vessels, resulting in reduced blood flow and oxygen delivery to tissues. Sickle cell anemia can cause severe pain episodes and increase the risk of infections, organ damage, and stroke.
Thalassemia is another group of genetic disorders characterized by the reduced or absent production of one or more of the protein chains that make up hemoglobin. Depending on which protein chain is affected, thalassemia can be classified as alpha or beta. Alpha thalassemia occurs when there is a deficiency in the production of alpha-globin chains. Beta thalassemia is due to a deficiency in beta-globin chains. The imbalance in the production of the different protein chains can lead to the destruction of red blood cells, resulting in anemia.
Treatment for hemoglobinopathies varies depending on the specific disorder and the severity of the anemia. Management often involves addressing the symptoms and complications of the disorder. This may include blood transfusions to maintain healthy red blood cell levels, iron chelation therapy to manage iron overload and medications to stimulate red blood cell production. In some cases, stem cell or bone marrow transplantation. Genetic counseling and family planning services may also be essential for individuals with hemoglobinopathies who are considering having children. (8)
