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Sunday 21 August 2011

Hereditary spherocytosis

- autosomal dominant (thus family screening is important)
- commoner among northen europeans
- due to defect in red cell membrane
- most common defect is ANKYRIN (45%) - chromosome 8
- can present with jaundice, asymptomatic, anaemia, splenomegaly, leg ulcer, gallstones (pigment)
- Investigations : osmotic fragility test, full blood picture
- screening by AGLT (acidified glycerol lysis test)
- Treatment : splenectomy, folic acid supplementation

1 comment:

Unknown said...

zmovie - Could just be the best horror film this year. The actors were superb. Toni Colette was amazing as Annie. I was gripped early on, and soon unsettled by what I saw happening in front of me. This isn't your typical horror film filled with half a dozen jump scares, but a film which cranks up the tension until it reaches an unbearable conclusion. I can't wait to see what Ari Aster does next.
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