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Patient‐focused outcomes following detection in a hospital‐based screening programme for C282Y haemochromatosis
Author(s) -
McCullen M. A.,
Fletcher L. M.,
Dimeski G.,
Pink A.,
Powell L. W.,
Crawford D. H. G.,
Hickman P. E.
Publication year - 2008
Publication title -
internal medicine journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.596
H-Index - 70
eISSN - 1445-5994
pISSN - 1444-0903
DOI - 10.1111/j.1445-5994.2007.01578.x
Subject(s) - phlebotomy , medicine , transferrin saturation , hemochromatosis , penetrance , genotyping , hereditary hemochromatosis , genetic testing , pediatrics , iron deficiency , genotype , anemia , phenotype , genetics , gene , biology
Background: Haemochromatosis is a common genetic disease in populations of a northern European origin. However, there is uncertainty as to whether it is a condition that should be screened for. Aims: To determine the proportion of persons, in a public hospital setting, who were homozygous for the C282Y mutation for hereditary haemochromatosis and the proportion of these persons who would benefit from therapeutic phlebotomy. Methods: All persons who had blood submitted for pathology testing, had total iron‐binding capacity and iron measured and transferrin saturation calculated, and where this result exceeded 40%, genotyping for the C282Y mutation was carried out. Results: Of 18 779 patients screened, 887 (5.4%) were found to have transferrin saturation greater than 40%. Thirty‐five of these were homozygous for the C282Y mutation. Fourteen were previously known to be affected and six of these were non‐compliant with venesection. Venesection was commenced in 5 of the 21 newly diagnosed subjects. Conclusions: The proportion of detected subjects who commenced venesection was significant. Results suggest that clinical penetrance is higher in Australia than other countries and that even in the environment of a large tertiary teaching hospital, phenotypic screening identifies cases of hereditary haemochromatosis, which are likely to benefit from treatment.