To assess whether genetic screening for hereditary haemochromatosis is appropriate. Two review questions contributed to this objective: (1) Does earlier therapeutic phlebotomy reduce morbidity and mortality in individuals with primary iron overload resulting from hereditary haemochromatosis, compared with treatment after diagnosis in routine clinical care; and (2) Are there groups at increased risk for hereditary haemochromatosis that can be easily identified before genetic screening. The review also examined the risk of developing haemochromatosis in C282Y homozygous individuals; this review question is not reported here.
Author's conclusions
There was insufficient evidence to predict the impact of either widespread or high-risk screening for genetic haemochromatosis,...
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