Abstract
The red blood cell membrane is a critical component to red cell structure and function. Inherited disorders of the red cell membrane can include both membrane structure defects, as in hereditary spherocytosis and hereditary elliptocytosis, or altered membrane ion transport, as in hereditary stomatocytosis. Defects within the membrane lead to red cell injury or destruction, often accompanied by a transformation to abnormal red cell morphology. These disorders are an important cause of both chronic and episodic hemolytic anemia and are often accompanied by signs and symptoms of hemolysis such as jaundice, hyperbilirubinemia, cholelithiasis, and splenomegaly. Individuals with red cell membrane disorders may be asymptomatic or may require episodic or chronic transfusions, folic acid supplementation, or even splenectomy in certain situations. This chapter will review the pathophysiology of these disorders as well as their diagnosis and clinical management, including the recognition and management of hemolytic anemia.
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