Disease or Syndrome
hereditary elliptocytosis
Subclass of:
Anemia, Hemolytic, Congenital
Definitions related to elliptocytosis, hereditary:
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(hereditary elliptocytosis) An autosomal dominant inherited hemolytic anemia that is characterized by the presence of elongated erythrocytes. It is most commonly associated with mutations in the SPTA1 and SPTB genes, which encode alpha- and beta-spectrin respectively.NICHD Pediatric TerminologyU.S. National Cancer Institute, 2021
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(hereditary elliptocytosis) An inherited blood disorder in which a large number of red blood cells have an elliptical morphology.NCI ThesaurusU.S. National Cancer Institute, 2021
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(hereditary elliptocytosis) Hereditary elliptocytosis (HE) is a rare clinically and genetically heterogeneous disorder of the red cell membrane characterized by manifestations ranging from mild to severe transfusion-dependent hemolytic anemia but with the majority of patients being asymptomatic.OrphaNetINSERM, 2021
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(hereditary elliptocytosis) Intrinsic defect of erythrocytes inherited as an autosomal dominant trait; erythrocytes assume an oval or elliptical shape.CRISP ThesaurusNational Institutes of Health, 2006
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An intrinsic defect of erythrocytes inherited as an autosomal dominant trait. The erythrocytes assume an oval or elliptical shape.NLM Medical Subject HeadingsU.S. National Library of Medicine, 2021
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Hereditary elliptocytosis (HE) encompasses inherited disorders of erythrocytes that have the common feature of elliptical RBCs on morphologic examination and shortened RBC survival. These disorders are clinically, genetically, and biochemically heterogeneous.WebMD, 2019
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Hereditary elliptocytosis (HE) refers to a group of inherited blood conditions where the red blood cells are abnormally shaped. Symptoms vary from very mild to severe and can include fatigue, shortness of breath, gallstones, and yellowing of the skin and eyes (jaundice). Some people with this condition have an enlarged spleen. Hereditary...National Center for Advancing Translational Sciences
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