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 red blood cell (RBC) membrane disorder characterised by the presence of stomatocytes—red cells with a slit-like or mouth-shaped central pallor—on the peripheral blood smear. Hereditary stomatocytosis and acquired forms are associated with altered membrane permeability, hemolysis, and variable degrees of anemia. Recognition of stomatocytosis is important in hematology because it […]

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Understanding Hereditary Elliptocytosis (HE): A Defect of the Red Cell Membrane Hereditary Elliptocytosis (HE), or ovalocytosis, is defined as a genetic disorder of the red cell membrane that affects the shape of red blood cells. Characterized by the presence of a majority of elliptical-shaped cells on the peripheral smear, HE results from specific mutations in cytoskeletal genes, notably spectrin (SPTA1, […]

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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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