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- Q541244 subject Q6853345.
- Q541244 subject Q7215597.
- Q541244 subject Q7216519.
- Q541244 abstract "Hereditary spherocytosis (also known as Minkowski–Chauffard syndrome) is an autosomal dominant abnormality of erythrocytes. The disorder is caused by mutations in genes relating to membrane proteins that allow for the erythrocytes to change shape. The abnormal erythrocytes are sphere-shaped (spherocytosis) rather than the normal biconcave disk shaped. Dysfunctional membrane proteins interfere with the cell's ability to be flexible to travel from the arteries to the smaller capillaries. This difference in shape also makes the red blood cells more prone to rupture. Cells with these dysfunctional proteins are taken for degradation at the spleen. This shortage of erythrocytes results in hemolytic anemia.It was first described in 1871 and is the most common cause of inherited hemolysis in Europe and North America within the Caucasian population, with an incidence of 1 in 5000 births. The clinical severity of HS varies from symptom-freecarrier to severe haemolysis because the disorder exhibits incomplete penetrance in its expression.Symptoms include anemia, jaundice, splenomegaly, and fatigue. On a blood smear, Howell-Jolly bodies may be seen within red blood cells. Primary treatment for patients with symptomatic HS has been total splenectomy, which eliminates the hemolytic process, allowing normal hemoglobin, reticulocyte and bilirubin levels.".
- Q541244 icd10 "D58.0".
- Q541244 icd9 "282.0".
- Q541244 meshId "D013103".
- Q541244 omim "182900".
- Q541244 thumbnail Hereditary_Spherocytosis_smear_2010-03-17.JPG?width=300.
- Q541244 wikiPageExternalLink nord81.asp.
- Q541244 wikiPageExternalLink 1220.htm.
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- Q541244 wikiPageWikiLink Q6853345.
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- Q541244 wikiPageWikiLink Q7215597.
- Q541244 wikiPageWikiLink Q7216519.
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- Q541244 icd "282".
- Q541244 icd "D58.0".
- Q541244 meshid "D013103".
- Q541244 name "Hereditary spherocytosis".
- Q541244 omim "182900".
- Q541244 type Disease.
- Q541244 type Thing.
- Q541244 type Q12136.
- Q541244 comment "Hereditary spherocytosis (also known as Minkowski–Chauffard syndrome) is an autosomal dominant abnormality of erythrocytes. The disorder is caused by mutations in genes relating to membrane proteins that allow for the erythrocytes to change shape. The abnormal erythrocytes are sphere-shaped (spherocytosis) rather than the normal biconcave disk shaped. Dysfunctional membrane proteins interfere with the cell's ability to be flexible to travel from the arteries to the smaller capillaries.".
- Q541244 label "Hereditary spherocytosis".
- Q541244 depiction Hereditary_Spherocytosis_smear_2010-03-17.JPG.
- Q541244 name "Hereditary spherocytosis".