sickle cell anaemia Flashcards

1
Q

what is the pathophysiology of sickle cell anaemia?

A
  1. beta globin chain misshapen due to defect in beta globin gene
  2. red blood cells have elongated sickle appearance
  3. intravascular haemolysis
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2
Q

how is sickle cell anaemia inherited?

A

autosomal dominant

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3
Q

sickle cell disease - genes

A
  1. mutation in HBBs gene

2. mutation in HBBs gene

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4
Q

sickle cell trait - genes

A
  1. mutation in HBBs
  2. normal HBB gene

( only carrier, mainly assymptomatic)

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