Hereditary Spherocytosis

Question 1

What is hereditary spherocytosis, what is it’s inheritance pattern, and in which groups is it most common?

Answer 1

1. Defect in red blood cell membrane proteins spectrin and ankyrin leading to an abnormal shape which is less flexible leading to spherocytes becoming lodged in and destroyed by the spleen.
2. Autosomal dominant
3. European populations

Question 2

What is this a presentation of?
Secondary to haemolysis. Anaemia, jaundice, abdominal pain secondary to gallstones due to high bilirubin, splenomegaly, aplastic crisis can occur.

Answer 2

Hereditary spherocytosis

Question 3

How is hereditary spherocytosis diagnosed?

Answer 3

1. Clinically with family history, EMA binding test if equivocal.
2. Anaemia and spherocytes on blood film.
3. High reticulocyte count
4. Evidence of haemolysis - high unconjugated hyperbilirubinaemia, high LDH

Question 4

What is the management of hereditary spherocytosis?

Answer 4

1. Folic acid to support increased erythropoiesis

2. Splenectomy from ages 6-9 - prophylactic penicillin V, pneumococcus vaccine.