Hereditary spherocytosis

What is Hereditary spherocytosis?

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 spheric 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.

Questions and answers on "Hereditary spherocytosis"

Hello. I was diagnosed with hereditary spherocytosis in my late 30s following a 3rd pregnancy that brought the HS from mild & undetected to severe....

doctor1 MD

Hello and welcome to HCM,
Hereditary spherocytosis is a hereditary disorder which is transmitted as autosomal dominant trait or autosomal recessive...

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i have hereditary spherocytosis , is it safe to have alot of sugar intake to build up my energy levels?

doctor1 MD

Hi welcome to HealthcareMagic

Hereditary spherocytosis is a genetic disorder in which, the shape of the RBC is spherical in shape, due to defect in...

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I recently found out I have genital herpes. Ive had one outbreak and I am now on valtrex 500mg daily for suppression along with Lysine 1000mg BID...

doctor1 MD

Hello. Thank you for writing to us

Spleen protects body against bloodstream infection by removing bacteria from blood.
Herpes virus inhabits and...

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