Hereditary Spherocytosis Flashcards
1
Q
What ethnic group most commonly has hereditary spherocytosis?
A
Northern European
2
Q
How is it inherited?
A
Autosomal dominant
3
Q
What does hereditary spherocytosis do to red blood cells?
A
Biconcave RBCs –> sphere-shaped RBCs.
RBC survival is reduced as they are destroyed by the spleen.
4
Q
What are the main presentations of someone with Hereditary Spherocytosis?
A
- Abdominal pain
- Splenic rupture
- Gallstones
5
Q
How can a patient with hereditary spherocytosis present?
A
- Failure to thrive
- Jaundice
- Gallstones
- Splenomegaly
- Aplastic crisis precipitated by parvovirus infection
- Degree of haemolysis variable
- MCHC elevated
6
Q
How is it diagnosed?
A
Osmotic fragility test
7
Q
How is it managed?
A
- Folate replacement
- Splenectomy
8
Q
What are the differences & similarities between hereditary spherocytosis and G6PD?
A
- G6PD occurs only in males (X-linked) but HS is in both genders (Aut Dominant)
- Ethnicity - G6PD Mediterranean. HS is in Northern European descendants.
- History - neonatal jaundice and gallstones occur in both. In G6PD, infection/drugs can cause haemolysis whilst in HS infections with parvovirus can precipitate an aplastic crisis.
- HS more likely to have splenomegaly.
