Hereditary Spherocytosis

Pathology:

An abnormal redcell membrane resulting in spherocytes � with an increased osmotic fragility � is the primary pathology of the disorder.

Aetiology:

This disorder is generally inherited in an autosomal dominant fashion.

Symptoms:

In some cases, no symptoms may occur. However, when they do, they tend to encompass lethargy and abdominal pain.

Signs:

• Anaemia
• Gallstones
• Splenomegaly
• Fluctuant jaundice

Investigations:

• Bloods: FBC (Full Blood Count), reticulocyte count
• Blood Film: Spherocytes and reticulocytes

Treatment:

• Medical: Folic acid, as well as blood transfusion when severely anaemic.
• Surgical: Splenectomy (not often required), cholecystectomy.

Complications

Cholecystitis is a common complication.

Prognosis:

Generally good.