Disease or Syndrome
hereditary spherocytosis
Subclass of:
Anemia, Hemolytic, Congenital
Definitions related to hereditary spherocytosis:
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An autosomal dominant inherited disorder characterized by the presence of smaller than normal, sphere-shaped erythrocytes. It results in hemolytic anemia and splenomegaly.NCI ThesaurusU.S. National Cancer Institute, 2021
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Autosomal dominant trait marked by splenomegaly, jaundice, and fragile, spheroid erythrocytes which are prematurely cleared by the spleen; anemia is usually mild; treatment is splenectomy.CRISP ThesaurusNational Institutes of Health, 2006
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(spherocytosis, hereditary) A group of familial congenital hemolytic anemias characterized by numerous abnormally shaped erythrocytes which are generally spheroidal. The erythrocytes have increased osmotic fragility and are abnormally permeable to sodium ions.NLM Medical Subject HeadingsU.S. National Library of Medicine, 2021
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Hereditary spherocytosis (HS) is a familial hemolytic disorder associated with a variety of mutations that lead to defects in red blood cell (RBC) membrane proteins. The morphologic hallmark of HS is the microspherocyte, which is caused by loss of RBC membrane surface area and has abnormal osmotic fragility in vitro.WebMD, 2019
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Hereditary spherocytosis is a condition characterized by hemolytic anemia (when red blood cells are destroyed earlier than normal). Signs and symptoms can range from mild to severe and may include pale skin, fatigue, anemia, jaundice, gallstones, and/or enlargement of the spleen. Other symptoms of hemolytic anemia may include feeling...National Center for Advancing Translational Sciences
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Hereditary spherocytosis (HS) is an inherited abnormality of the red blood cell, caused by defects in structural membrane proteins. The condition is dominantly inherited in 75% of people. The severity of the disorder is related to the type and amount of membrane disruption, which is genetically determined. The abnormal cells are...Athenahealth, Inc., 2019
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Hereditary spherocytosis, congenital blood disorder characterized by an enlarged spleen, spherical (rather than disk-shaped) red blood cells of variable size and increased fragility of cell membrane, and a chronic, mild hemolytic anemia punctuated by episodes of severe aplastic anemia (failure of...Encyclopedia Britannica, Inc., 2020
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