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Hereditary Spherocytosis

Title

Ñ    Hereditary Spherocytosis

Definition

Ñ    Inherited haemolytic anaemia

Characterised by:

Ñ    Spherocytic red cells

Aetiology

Ñ    Autosomal dominant inheritance

Ñ    25 % spontaneous mutation

Pathogenesis

Ñ    Defect in red cell membrane that results in the cells losing part of their membrane as they pass through the spleen

Ñ    Abnormal cell membrane has an increased permeability to sodium requiring an increase in active transport of sodium out of the cells

Ñ    Surface to volume ratio of cells decreases

Ñ    This makes them spherocytic and causes them to be less deformable.

Ñ    This results in them being destroyed as they are unable to get through the splenic microcirculation.

Clinical Features

Ñ    Jaundice:

At birth or delayed for many years

Ñ    Some are asymptomatic and detected at family studies

IS

Ñ    Leg ulcers

GIT

Ñ    Gallstones

HS

Ñ    Anaemia

Ñ    Jaundice

Ñ    Splenomegaly

Complications

Ñ    Aplastic crises

Ñ    Haemolytic crises

Ñ    Megaloblastic crises

Investigations

Fluids

Blood

Haematology

Ñ    Anaemia:

Mild

Ñ    Spherocytosis

Ñ    Reticulocytosis

Ñ    Osmotic Fragility:

Increased

Ñ    Direct Coombs’ Test:

Negative       

Biochemistry

Ñ    Serum bilirubin:

Increased

Urine

Ñ    Urobilinogen:

Increased

Imaging

Ultrasound

Ñ    Gallstones

Management

Control

Surgery

Ñ    Splenectomy:

Usually delayed till after childhood

Support

Drugs

Ñ    Folic acid supplementation

Increased demand for folic acid

Biological agents

Ñ    Blood transfusion:

Aplastic crises

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