Hereditary spherocytosis

Hereditary spherocytosis is an inherited red-cell membrane disorder in which loss of membrane surface area makes cells spherical, rigid, and prone to destruction in the spleen.

Red blood cell membrane: A flexible lipid-and-protein boundary that gives red blood cells their shape and helps them withstand circulation. Its structural proteins are disrupted in hereditary spherocytosis.
Hemolytic anemia: Anemia caused by red blood cells being destroyed faster than the bone marrow can replace them. Hereditary spherocytosis causes anemia through accelerated red-cell destruction.
Peripheral blood smear: A laboratory examination of blood cells spread thinly on a glass slide and stained for microscopy. It can reveal spherocytes and polychromasia in affected blood.
ANK1: The gene encoding ankyrin-1, a protein that anchors the red-cell membrane skeleton to the membrane. ANK1 variants are a common cause of hereditary spherocytosis.
Ankyrin: A protein that links the red blood cell membrane skeleton to the cell's lipid membrane. ANK1 mutations can weaken membrane attachment and cause membrane loss.
Spherocyte: A spherical red blood cell with reduced central pallor and less membrane surface area relative to its volume. This is the characteristic cell shape found on a blood smear.
Eosin-5-maleimide binding test: A flow-cytometry test that measures fluorescent dye binding to red blood cells, especially band 3 and related proteins. Reduced dye binding supports diagnosis of hereditary spherocytosis.
SPTB: The gene encoding the beta subunit of spectrin, a major red-cell cytoskeletal protein. Pathogenic SPTB variants can disrupt membrane stability.
Spectrin: A flexible cytoskeletal protein that forms a network supporting the shape and resilience of red blood cells. Defective spectrin weakens the membrane skeleton in some inherited cases.
Reticulocyte: An immature red blood cell recently released from the bone marrow into the bloodstream. Reticulocyte counts often rise as marrow production responds to hemolysis.

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