Journal article

Pilot study of early diagnosis of hereditary haemochromatosis through systematic case finding in primary care.

Jon Emery, Peter Rose, Jean Harcourt, Karen Livesey, Alison Merryweather-Clarke, Jennifer J Pointon, Kathryn Robson

Community Genet | Published : 2002

Abstract

OBJECTIVES: To test the feasibility of adopting and evaluating a systematic case-finding approach to the early diagnosis of hereditary haemochromatosis (HHC) in primary care, and to estimate the prevalence of presenting conditions for which HHC testing could be offered. METHODS: Systematic identification of, and genotyping for, C282Y and H63D mutations in patients presenting in primary care with possible symptoms of HHC during a 4-week period to 1 of 14 doctors in Oxfordshire. RESULTS: From a total of 4,022 consultations, 169 (4.2%; 95% CI: 3.6-4.8) adult patients had possible symptoms of HHC. Of these, 88 (2.2%; 95% CI: 1.7-2.6) were aged 25-70 and were offered genotyping for HHC, of whom 6..

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