土耳其人群中铁过载筛查。

Screening for iron overload in the Turkish population.

作者信息

Barut Gultekin, Balci Huriye, Bozdayi Mithat, Hatemi Ibrahim, Ozcelik Dervis, Senturk Hakan

机构信息

Department of Internal Medicine, Cerrahpasa Medical Faculty, University of Istanbul, Istanbul, Turkey.

出版信息

Dig Dis. 2003;21(3):279-85. doi: 10.1159/000073985.

DOI:10.1159/000073985

PMID:14571105

Abstract

BACKGROUND/AIMS: Hereditary hemochromatosis (HH), the most common autosomal recessive disease in the white population, is characterized by excessive gastrointestinal absorption of iron and loading of parenchymal organs. HFE mutations of C282Y and H63D are largely responsible for HH in populations of Celtic ancestry. Although many screening studies related to HH have been done in Northern Europe, the USA and Australia, as yet, no such study has been published on Turkey. In this study we aimed to screen the Turkish population for iron overload.

METHODS

Random samples were obtained from 4,633 healthy adults (3,827 male, 806 female, mean age +/- SD 35 +/- 8 years, range 14-76) for the measurement of transferrin saturation (TS). Measurements were repeated after an overnight fast in the subjects whose initial TS was > or =50%. Serum ferritin levels and C282Y and H63D gene mutations were studied in cases when fasting TS was > or =50%. In cases where the serum ferritin level was >200 ng/ml with or without HFE mutations, liver biopsy was performed for histological evaluation and determination of iron content.

RESULTS

In 158 subjects, TS was > or =50% in the non-fasting state. A second determination of TS after an overnight fast was performed in 135 subjects. In 26 subjects, the TS was > or =50% in the fasting state. HFE mutation and serum ferritin levels were measured in these 26 subjects. Eleven subject (10 male, 1 female) were heterozygote and 1 male subject was homozygote in reference to H63D. C282Y mutation was not found. Four of these 26 subjects (all males, aged 23, 24, 40, 49) had increased serum ferritin levels and liver biopsy was performed. In 1 male (aged 49) who was heterozygote for H63D genotype with a serum ferritin level of 645 ng/ml, iron overload in liver tissue was shown by histology as well as atomic absorption spectrophotometry.

CONCLUSION

The prevalence of hemochromatosis in the Turkish population is much lower in comparison to populations of Celtic ancestry and C282Y mutation is non-existent.

摘要

背景/目的：遗传性血色素沉着症（HH）是白种人群中最常见的常染色体隐性疾病，其特征为胃肠道铁吸收过多以及实质器官铁负荷过重。C282Y和H63D的HFE基因突变在凯尔特血统人群的HH发病中起主要作用。尽管在北欧、美国和澳大利亚已经开展了许多与HH相关的筛查研究，但土耳其尚未发表此类研究。在本研究中，我们旨在对土耳其人群进行铁过载筛查。

方法

从4633名健康成年人（3827名男性，806名女性，平均年龄±标准差35±8岁，范围14 - 76岁）中随机抽取样本，测量转铁蛋白饱和度（TS）。初始TS≥50%的受试者在禁食过夜后重复测量。当禁食TS≥50%时，研究血清铁蛋白水平以及C282Y和H63D基因突变情况。血清铁蛋白水平＞200 ng/ml且伴有或不伴有HFE基因突变的受试者，进行肝活检以进行组织学评估并测定铁含量。

结果

158名受试者在非禁食状态下TS≥50%。135名受试者在禁食过夜后再次测定TS。26名受试者在禁食状态下TS≥50%。对这26名受试者测量了HFE基因突变和血清铁蛋白水平。11名受试者（10名男性，1名女性）为H63D杂合子，1名男性受试者为H63D纯合子。未发现C282Y突变。这26名受试者中有4名（均为男性，年龄分别为23、24、40、49岁）血清铁蛋白水平升高，进行了肝活检。1名49岁男性为H63D基因型杂合子，血清铁蛋白水平为645 ng/ml，组织学及原子吸收分光光度法显示其肝组织存在铁过载。