TITLE

BIOCHEMICAL AND CLINICAL PENETRANCE OF INDIVIDUALS DIAGNOSED WITH HAEMOCHROMATOSIS BY PREDICTIVE GENETIC TESTING

PUB. DATE
April 2004
SOURCE
Gut;Apr2004 Supplement 3, Vol. 53, pA86
SOURCE TYPE
Academic Journal
DOC. TYPE
Article
ABSTRACT
Genetic haemochromatosis is a common genetic disorder in white populations. However, the diagnosis of GH remains very tow suggesting either underdiagnosis or low clinical penetrance. his study suggests that although biochemical penetrance of GH is high, the clinical penetrance is low. Fifty six individuals were identified, 27 of whom were male. Fifty one were homozygous for the C282Y mutation and the remaining five were compound heterozygotes. Mean age was 44.8 years. All 27 males had evidence of iron overload compared with 69% of females.
ACCESSION #
13219153

 

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