Category: Disorders of the red cell membrane

Introduction: Paroxysmal nocturnal hemoglobinuria (PNH) is a rare acquired, life-threatening disease of the blood. The disease is characterized by destruction of red blood cells by the complement system, a part of the body’s innate immune system (hemolytic anemia), blood clots (thrombosis), and impaired bone marrow function (not making enough of the three blood components). PNH is the only hemolytic anemia caused by an acquired (rather than […]

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Acanthocytes (spur cells) are spiculated red cells with a few projections of varying size and surface distribution. The formation of acanthocytes depends on the alteration of the lipid composition and fluidity of the red cell membrane. Acanthocytosis may be inherited (autosomal recessive) in association with retinitis pigmentosa, diffuse neurological deficits, and abetalipoproteinemia. In abetalipoproteinaemia, an autosomal recessive condition, vitamin E […]

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Stomatocytes (RBCs with slit-like central pallor) Stomatocytosis is a rare condition of RBCs in which a mouthlike or slitlike pattern replaces the normal central zone of pallor. These cells are associated with congenital and acquired hemolytic anemia. The symptoms result from anemia and hemolysis. The symptoms of stomatocytosis can vary depending on the severity of the disorder. In some cases, people […]

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Hereditary Elliptocytosis (HE), also known as ovalocytosis, is a disorder of the red cell membrane inherited usually in an autosomal dominant pattern. In this condition, the majority of cells have an elliptical shape. The osmotic fragility is normal. HE is due to defects in either the structure or quantity of the cytoskeletal proteins responsible for maintaining the biconcave morphology of RBCs. Mutations […]

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Hereditary Spherocytosis (HS) is a disorder of the red cell membrane inherited usually in an autosomal dominant pattern. In this condition, the red cells are more rigid and fragile than normal. They are spherocytic, appearing small, deeply stained on blood smears, and have osmotic fragility. Spherocytes are found in all hemolytic anemias to some degree. Hereditary spherocytosis and autoimmune hemolytic […]

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