Hereditary spherocytosis Flashcards
1
Q
Hereditary spherocytosis is ?
A
autosomal dominant defect of red blood cell cytoskeleton
EXTRAVASCULAR HEMOLYSIS
2
Q
x
A
3
Q
x
A
4
Q
presentation of hereditary spheroctoss ?
A
failure to thrive
jaundice,
gallstones
splenomegaly
aplastic crisis precipitated by parvovirus infection / infection
degree of haemolysis variable
5
Q
Diagnosis
A
osmotic fragility test was previously
MCHC elevated - mean corpuscular haemoglobin concentration [MCHC]
e EMA binding test and the cryohaemolysis test
atypical presentations electrophoresis analysis of erythrocyte membranes
6
Q
Mx ?
A
cute haemolytic crisis:
treatment is generally supportive
transfusion if necessary
longer term treatment:
folate replacement
splenectomy
