当前位置： SCI文献检索 > JOURNAL OF CLINICAL GASTROENTEROLOGY期刊下所有文献 > Frequency of HFE mutations among Turkish blood donors according to transferrin saturation: genotype screening for hereditary hemochromatosis among voluntary blood donors in Turkey.

Frequency of HFE mutations among Turkish blood donors according to transferrin saturation: genotype screening for hereditary hemochromatosis among voluntary blood donors in Turkey.

Abstract：

BACKGROUND AND GOALS:The C282Y and H63D mutations of HFE gene are associated with hereditary hemochromatosis (HH), the most common autosomal recessive disorder in European population. This is the first Turkish population study of, the prevalence of these mutations. STUDY:2677 healthy volunteer blood donors were screened by means of transferrin saturation (TS) with the cutoff value of 45. As study group, 86 donors with a TS 45 or higher and as control group 57 donors with TS less than 45 were tested for these mutations, ferritin, and alanin aminotransferase (ALT) levels. RESULTS:The mean age of donors were 33+/-9 and 94.1% of them were male. The number of donors with TS 45 or higher was 265 (9.9%). C282Y mutation was not detected. The frequency of H63D mutation in the study, control and general groups were 27.32%, 21.05%, and 24.83%, respectively. As a result, the H63D mutation was present in 60 out of 143 participants in whom 49 were heterozygote (frequency of heterozygote allele 49/286 = 17.13%), 11 were homozygote (frequency of homozygote allele 22/286 = 7.69%). Serum ALT and TS were not affected from the type of H63D mutation. There was no difference in ferritin levels according to type of H63D mutations among 143 blood donors. CONCLUSION:This study revealed the absence of C282Y mutation in our population. Although the frequency of H63D heterozygosity seems to be higher than the other population, the genetic screening for the HFE gene mutation is inadequate and the phenotypic screening with TS and ferritin seems to be preferable in Turkish population.

journal_name

J Clin Gastroenterol

journal_title

Journal of clinical gastroenterology

authors

Simsek H,Sumer H,Yilmaz E,Balaban YH,Ozcebe O,Hascelik G,Buyukask Y,Tatar G

doi

10.1097/01.mcg.0000135901.52818.f7

subject

Has Abstract

pub_date

2004-09-01 00:00:00

pages

671-5

issue

8

eissn

0192-0790

issn

1539-2031

pii

00004836-200409000-00010

journal_volume

38

pub_type

杂志文章

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