Hereditary hemolytic anemias are a group of inherited blood disorders characterized by the premature destruction of red blood cells (hemolysis) in the body. These conditions typically result from genetic abnormalities that affect the structure, function, or production of hemoglobin, a protein responsible for delivering oxygen to the body's tissues. As a consequence, affected individuals experience a reduction in the number of red blood cells (anemia) and may display symptoms such as fatigue, weakness, and shortness of breath.
There are several types of hereditary hemolytic anemias, with the most common being sickle cell disease and thalassemia. Sickle cell disease is characterized by the presence of abnormal, crescent-shaped red blood cells, resulting in episodes of pain, organ damage, and an increased risk of infections. Thalassemias, on the other hand, involve defects in the production of hemoglobin, leading to a variety of clinical presentations ranging from mild anemia to a severe, life-threatening condition requiring lifelong blood transfusions.
Hereditary hemolytic anemias can be inherited in an autosomal recessive or, less commonly, an autosomal dominant manner, meaning that an individual must inherit two copies of the abnormal gene - one from each parent - to develop the condition. Diagnosis of these disorders often involves a combination of clinical evaluation, blood tests, and genetic testing to identify the underlying genetic mutation. Treatment options may include blood transfusions, medication to manage symptoms, and in some cases, bone marrow transplantation.
