Paroxysmal Nocturnal Hemoglobinuria

Paroxysmal nocturnal hemoglobinuria showing classical venous thrombosis sites including Budd–Chiari syndrome and superior sagittal sinus thrombosis on imaging

Introduction: Paroxysmal nocturnal hemoglobinuria (PNH) is a rare, acquired, life-threatening hematologic disorder characterized by complement-mediated intravascular hemolysis, a marked tendency for thrombosis, and varying degrees of bone marrow failure. It is the only form of hemolytic anemia caused by an acquired intrinsic defect of the red blood cell membrane rather than an inherited abnormality. This defect results from a mutation […]

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Acanthocytosis

Retinitis pigmentosa showing bone spicule pigmentation associated with acanthocytosis and abetalipoproteinemia

Acanthocytes, also known as spur cells, are abnormal red blood cells characterized by irregularly spaced, variably sized membrane projections, reflecting a true structural alteration of the erythrocyte membrane rather than a reversible shape change. The development of acanthocytosis results from disruption of the lipid composition and reduced fluidity of the red cell membrane, most commonly due to an increased cholesterol-to-phospholipid […]

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Stomatocytosis

Peripheral blood smear image showing red blood cells with a central slit-like pallor, characteristic of stomatocytosis.

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 may indicate an underlying red cell […]

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Elliptocytosis

Peripheral blood smear showing elliptical red cells (elliptocytes) characteristic of hereditary elliptocytosis.

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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Spherocytosis

Spherocytes in warm autoimmune hemolytic anemia showing small dense red blood cells with loss of central pallor

Hereditary spherocytosis (HS) is the most common inherited red blood cell membrane disorder, typically transmitted in an autosomal dominant pattern. It is characterized by structurally abnormal red blood cells that become spherical (spherocytes), rigid, and osmotically fragile. On peripheral blood smear, these cells appear smaller, dense, and deeply stained with loss of central pallor. While spherocytes may be seen to […]

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