Patient-focused outcomes following detection in a hospital-based screening programme for C282Y haemochromatosis.

Patient-focused outcomes following detection in a hospital-based screening programme for C282Y haemochromatosis. Research Abstract Details 

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Patient-focused outcomes following detection in a hospital-based screening programme for C282Y haemochromatosis. Abstract Text:

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.

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Patient-focused outcomes following detection in a hospital-based screening programme for C282Y haemochromatosis. Journal Published:

PUBLICATION TYPE: Journal Article

Journal: Internal medicine journal

VOLUME: 38

Page Numbers: 651-6

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ISSN: 1445-5994

DAY: 17

MONTH: 02

YEAR: 2008

Patient-focused outcomes following detection in a hospital-based screening programme for C282Y haemochromatosis. Information

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LANGUAGE: eng

NlmUniqueID: 101092952

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Grant and Affiliation Information for Patient-focused outcomes following detection in a hospital-based screening programme for C282Y haemochromatosis.

AFFILIATION: Department of Gastroenterology and Hepatology, Royal Brisbane Hospital, Brisbane, Qld, Australia.

Country: Australia

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MEDLINETA: Intern Med J

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