Anaemia - Haemolytic Anaemia - Hereditary Spherocytosis / Elliptocytosis

Question 1

What is Hereditary Spherocytosis (Elliptocytosis)?

Answer 1

Autosomal Dominant condition causing sphere-shaped RBCs that are fragile and easily broken down when passing through the spleen. (Ellipse).

Question 2

Epidemiology of Hereditary Spherocytosis.

Answer 2

Commonest inherited haemolytic anaemia in Northern Europeans.

Question 3

Clinical Presentation of Hereditary Spherocytosis. (Elliptocytosis) (5).

Answer 3

1. Jaundice (+ Neonatal).
2. Gallstones.
3. Splenomegaly.
4. Aplastic Crisis (in Presence of Parvovirus).
5. Failure to Thrive.

Question 4

Diagnosis of Hereditary Spherocytosis. (Elliptocytosis).

Answer 4

1. Family History.
2. Clinical Features.
3. Spherocytes on Blood Film. (Elliptocytosis).

Question 5

Investigations of Hereditary Spherocytosis & Elliptocytosis.

Answer 5

1. Raised MHCH.

2. Raised Reticulocytes (Rapid Turnover of RBCs).

Question 6

Management of Hereditary Spherocytosis / Elliptocytosis (3).

Answer 6

1. Folate Supplemetation.
2. Splenectomy.
3. Cholecystectomy if Gallstones are Present.

Question 7

Management of Acute Presentation of Hereditary Spherocytosis/Elliptocytosis.

Answer 7

1. Supportive.

2. Transfusion if Necessary.