Hereditory spherocytosis

• This is the abnormality of red blood cells.

• This is usually inherited as an AUTOSOMAL DOMINANT condition.

• The most common abnormalities are deficiencies of BETA SPECTRIN or ANKYRIN.

• Most cases are associated with an asymptomatic compensated chronic haemolytic state with spherocutes present on the blood film, a reticulocytosis and mild hyperbilirubinaemia.

• Pigment GALLSTONES are present in up to 50% of patients and may cause chlolecystitis.

The clinical course may be complicated by crisis :

• A HAEMOLYTIC CRISIS occurs when the severity of haemolysis increases.

• A MEGALOBLASTIC CRISIS follows the development of folate deficiency.

• An APLASTIC CRISIS occurs in association with PARVOVIRUS B19 infection.

Investigations

• The blood film will show spherocytes but the direct Coombs test is negative, excluding immune haemolysis.

• An OSMOTIC FRAGILITY TEST may show increased sensitivity to lysis in hypotonic saline solutions but is limited by lack of sensitivity and specificity.

• FLOW CYTOMETRIC TEST detects binding of eosin-5-maleimide to red cells.

Management

• FOLIC ACID prophylaxis 5 mg daily, should be given for life.

• SPLENECTOMY indicated in moderate to severe haemolysis.

BLOOD TRANSFUSION in case of severe haemolytic crisis.

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