Best Practice Guidelines for Genetic Testing of Hereditary Haemochromatosis
Author Information
Author(s): Caitriona King, David E. Barton
Primary Institution: National Centre for Medical Genetics, Our Lady's Children's Hospital, Crumlin, Dublin, Ireland
Hypothesis
There was a clear need for agreed guidelines for haemochromatosis genetic testing due to diverse testing methods and reporting practices.
Conclusion
An agreed set of best practice guidelines were developed for diagnostic, predictive and carrier testing for hereditary haemochromatosis and for reporting the results of such testing.
Supporting Evidence
- Hereditary haemochromatosis is common in Northern European populations, affecting 1 in every 200-300 individuals.
- 80-93% of symptomatic individuals are homozygous for the HFE mutation, C282Y.
- Clinical expression of the condition is variable, indicating low penetrance of the mutations.
Takeaway
Doctors have created a set of rules to help test for a condition called hereditary haemochromatosis, which can cause too much iron in the body. This helps ensure everyone is tested in the same way.
Methodology
A survey of current practice in the molecular diagnosis of haemochromatosis was conducted, followed by the preparation of draft guidelines and a consensus workshop.
Limitations
The guidelines may not address all local practices and the need for testing for H63D remains debated.
Participant Demographics
Participants included professionals from various disciplines related to genetics and haematology, primarily from the UK and Ireland.
Digital Object Identifier (DOI)
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