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Lessons from a survey of genotyping for hereditary haemochromatosis
  1. Sebastian Francis1,
  2. Jecko Thachil2
  1. 1Haematology Department, Royal Wolverhampton NHS Trust, Wolverhampton, West Midlands, UK
  2. 2Haematology Department, Manchester Royal Infirmary, Manchester, UK
  1. Correspondence to Dr Sebastian Francis, Haematology Department, Royal Wolverhampton NHS Trust, Wolverhampton, West Midlands WV10 0QP, UK; Sebastian.Francis{at}nhs.net

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Hereditary haemochromatosis (HH) is an autosomal recessive disorder caused by mutations in the HFE gene, which leads to increased intestinal iron absorption. Although HH was a diagnosis made after testing for clinical symptoms related to excessive iron deposition in different organs, the advent of genetic testing for HFE mutations and family screening has led to increased diagnosis of asymptomatic patients.1 The ‘easier’ availability of the genetic testing has also led to a practice where very often an identification of high ferritin instigates genotyping which is not in line with the British Committee of Standards in Haematology (BCSH) guidelines which recommend transferrin saturation (T-sat) as the next investigation (not genotyping) once an elevated serum ferritin is identified.2 In this work, we attempted to determine the positive pick-up rate of HH from all the genotyping requests for this condition from a single centre.

The HFE requests from January 2011 to December 2013 at the …

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