β-Globin

The β-globin category refers to conditions related to mutations in the HBB gene, which codes for the beta-globin protein, a crucial component of hemoglobin. Hemoglobin is vital for oxygen transport in the blood. Defects in the HBB gene can lead to a range of hemoglobinopathies, including Sickle Cell Anemia and various forms of Thalassemia. These disorders often result in abnormal red blood cell shapes, reduced oxygen-carrying capacity, and symptoms like anemia, fatigue, and more severe complications such as organ damage. Management typically involves symptom control and may require blood transfusions or medication. Early diagnosis and treatment are crucial for improving patient outcomes.