spherocytosis

spherocytosis
Presence of sphere-shaped red blood cells in the blood. SYN: microspherocytosis. [spherocyte + G. -osis, condition]
- hereditary s. [MIM*182900] a congenital defect of spectrin [MIM*182860], the main component of the erythrocyte cell membrane, which becomes abnormally permeable to sodium, resulting in thickened and almost spherical erythrocytes that are fragile and susceptible to spontaneous hemolysis, with decreased survival in the circulation; results in chronic anemia with reticulocytosis, episodes of mild jaundice due to hemolysis, and acute crises with gallstones, fever, and abdominal pain; symptomatology is highly variable; autosomal dominant inheritance, caused by mutation in the ankyrin gene (ANK1) on 8p. However, as with elliptocytosis, there is an autosomal recessive form [MIM*270970], caused by mutation in the alpha-spectrin 1 gene (SPTA1) on chromosome 1q. SYN: chronic acholuric jaundice, chronic familial icterus, chronic familial jaundice, congenital hemolytic icterus, congenital hemolytic jaundice, spherocytic anemia.

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sphe·ro·cy·to·sis .sfir-ō-sī-'tō-səs, .sfer- n the presence of spherocytes in the blood esp HEREDITARY SPHEROCYTOSIS

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n.
the presence in the blood of abnormally shaped red cells (spherocyte). Spherocytosis may occur as a hereditary disorder (hereditary spherocytosis) or in certain haemolytic anaemia.

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sphe·ro·cy·to·sis (sfēr″o-si-toґsis) the presence of spherocytes in the blood; called also microspherocytosis.

Medical dictionary. 2011.

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Look at other dictionaries:

  • Spherocytosis — Infobox Disease Name = PAGENAME Caption = DiseasesDB = 12289 ICD10 = ICD10|D|58|0|d|55 ICD9 = ICD9|282.0 ICDO = OMIM = 182900 OMIM mul = OMIM2|270970 MedlinePlus = 000530 eMedicineSubj = med eMedicineTopic = 2147 MeshID = Spherocytosis is an auto …   Wikipedia

  • spherocytosis — n. the presence in the blood of abnormally shaped red cells (spherocytes). Spherocytosis may occur as a hereditary disorder (hereditary spherocytosis) or in certain haemolytic anaemias …   The new mediacal dictionary

  • spherocytosis — A condition in which erythrocytes lose their biconcave shape and become spherical. It occurs as cells age, and is also found in individuals with abnormal cytoskeletal proteins, (hereditary spherocytosis, a disorder that leads to haemolytic… …   Dictionary of molecular biology

  • Spherocytosis, hereditary (HS) — A genetic disorder of the red blood cell membrane clinically characterized by anemia, jaundice (yellowing) and splenomegaly (enlargement of the spleen). In HS the red cells are smaller, rounder, and more fragile than normal. The red cells have a… …   Medical dictionary

  • spherocytosis — sphero·cy·to·sis …   English syllables

  • spherocytosis — ˌ ̷ ̷ ̷ ̷ˌsīˈtōsə̇s noun ( es) Etymology: New Latin, from International Scientific Vocabulary spherocyte + New Latin osis : a familial anemia in which the red blood cells are smaller than normal and spherical in form and which commonly… …   Useful english dictionary

  • Hereditary spherocytosis — This article is about aspects of spherocytosis specific to the hereditary form of the disorder. For details that apply generally to this variant as well as others, see Spherocytosis. Hereditary spherocytosis Classification and external resources… …   Wikipedia

  • Hereditary spherocytosis (HS) — A genetic disorder of the red blood cell membrane clinically characterized by anemia, jaundice (yellowing) and splenomegaly (enlargement of the spleen). In HS the red cells are smaller, rounder, and more fragile than normal. The red cells have a… …   Medical dictionary

  • HS (hereditary spherocytosis) — A genetic disorder of the red blood cell membrane clinically characterized by anemia, jaundice (yellowing) and splenomegaly (enlargement of the spleen). In HS the red cells are smaller, rounder, and more fragile than normal. The red cells have a… …   Medical dictionary

  • Сфероцитоз (Spherocytosis) — наличие в крови эритроцитов неправильной формы (сфероцитов). Сфероцитоз может быть наследственным (наследственный сфероцитоз (hereditary spherocytosis)) или развиваться при некоторых видах гемолитических анемий. Источник: Медицинский словарь …   Медицинские термины

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