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Hereditary spherocytosis; new guidelines
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  1. P H B Bolton-Maggs
  1. Correspondence to:
    Dr P Bolton-Maggs
    Consultant Haematologist, Department of Clinical Haematology, Manchester Royal Infirmary, Oxford Road, Manchester M13 9WL, UK; paula.bolton-maggsman.ac.uk

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Hereditary spherocytosis

Hereditary spherocytosis (HS) is the commonest cause of haemolysis in northern Europe. Most children have mild disease with little interference with lifestyle. Presentation with parvovirus B19 infection causing transient severe anaemia is not uncommon. The laboratory diagnosis of HS is usually straightforward and additional tests are rarely required. A new test, EMA binding, will probably replace the time consuming and non-specific osmotic fragility test. Splenectomy leads to improved red cell survival and is indicated for severe and probably moderate disease; gallstones may occur in the first decade, and if symptomatic are an indication for both cholecystectomy and splenectomy. Splenectomy is associated with a life long increased risk of sepsis, which has not been completely eradicated by preoperative vaccinations and post-splenectomy antibiotic prophylaxis.

Haemolysis is an uncommon cause of anaemia in children. The commonest cause of anaemia is iron deficiency, globally a major problem; worldwide, haemolysis is most commonly associated with a red cell enzyme deficiency, glucose-6-dehydrogenase deficiency (G6PD). Haemolysis produced by G6PD deficiency is usually episodic and self-limiting; in contrast the haemolysis associated with hereditary spherocytosis, a red cell membrane disorder, is chronic, and prone to exacerbations with intercurrent infections. Hereditary spherocytosis (HS) is the commonest cause of inherited haemolysis in northern Europe and the USA; the incidence is in the order of 1 in 5000 births, but rises to 1 in 2000 if milder forms are considered.1 It has been reported in most ethnic groups, and can come to light at any age, mild cases often being diagnosed in adulthood. Although HS is relatively common, there has been little published advice concerning management; new guidelines have been produced2 and this article summarises some of the relevant issues.

PATHOLOGY

The defects in hereditary spherocytosis lie in the red cell membrane (fig 1).2 The proteins essential for …

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