Hereditary Spherocytosis Flashcards
1
Q
Pathophysiology of Hereditary Spherocytosis
A
- autosomal dominant
- defect of red blood cell cytoskeleton
- the normal biconcave disc shape is replaced by a sphere-shaped red blood cell
- red blood cell survival reduced as destroyed by the spleen
2
Q
Presentation of Hereditary Spherocytosis
A
- failure to thrive
- jaundice
- gallstones
- splenomegaly
- aplastic crisis precipitated by parvovirus infection
- degree of haemolysis variable
- MCHC elevated
3
Q
Diagnosis of Hereditary Spherocytosis
A
- ‘patients with a family history of HS, typical clinical features and laboratory investigations (spherocytes, raised mean corpuscular haemoglobin concentration[MCHC], increase in reticulocytes) do not require any additional tests
- if the diagnosis is equivocal → cryohaemolysis test and EMA binding
- for atypical presentations → electrophoresis analysis of erythrocyte membranes
4
Q
What is a typical laboratory picture of Hereditary Spherocytosis? (3)
A
- spherocytes
- raised mean corpuscular haemoglobin concentration [MCHC]
- increase in reticulocytes
5
Q
Management of Hereditary Spherocytosis (2)
A
- folate replacement
- splenectomy
6
Q
Compare G6PD deficiency vs. Hereditary Spherocytosis
- gender
- ethnicity
A
7
Q
Typical history of G6PD Deficiency vs Hereditary Spherocytosis
A
8
Q
What is seen on the blood film of G6PD deficiency vs Hereditary spherocytosis?
A
9
Q
The diagnostic test of G6PD deficiency vs Hereditary Spherocytosis
A
