Robinson Geoffrey, Narasimhan Seshasayee, Weatherall Mark, Beasley Richard
Medical Research Institute of New Zealand, Wellington, New Zealand.
J Gastroenterol Hepatol. 2007 Jun;22(6):852-4. doi: 10.1111/j.1440-1746.2006.04519.x.
Screening of target populations for hemochromatosis (HFE) gene allele status has been recommended. Alcoholic liver disease may be associated with iron overload and there is evidence of excessive alcohol consumption among patients with hereditary hemochromatosis. This study determined the HFE gene allele status in alcohol-dependent patients and explored the associations between iron status, liver enzymes, and HFE status.
A total of 151 consecutive patients admitted for alcohol detoxification were tested for HFE mutations, iron status, and liver function tests. The prevalence data were compared with those from a New Zealand population. manova was used to compare liver function tests and iron status for subjects with different HFE mutations.
Three compound heterozygotes, one homozygote for C282Y, and one homozygote for H63D were found among the 151 patients. For the remaining 146 patients, there was no difference in the distribution of heterozygote status by allele, compared to the general New Zealand population. No HFE mutation: general population 64.4%, alcohol-dependent patients 64.4%; H63D: general population 23.6%, alcohol-dependent patients 28.1%; C282Y: general population 11.9%, alcohol-dependent patients 7.5% (P = 0.20). There was no relationship between liver function tests or iron status and HFE mutation status among the study group.
No evidence has been found in the present that HFE allele status prevalence is different from the general population or associated with different liver function or iron status among alcohol-dependent patients. The cause of altered iron status among alcohol-dependent patients does not appear to be related to HFE status.
推荐对目标人群进行血色素沉着症（HFE）基因等位基因状态筛查。酒精性肝病可能与铁过载有关，且有证据表明遗传性血色素沉着症患者存在过量饮酒情况。本研究确定了酒精依赖患者的HFE基因等位基因状态，并探讨了铁状态、肝酶与HFE状态之间的关联。
对151例因酒精戒断入院的连续患者进行HFE突变、铁状态及肝功能检查。将患病率数据与新西兰人群的数据进行比较。采用多变量方差分析比较不同HFE突变患者的肝功能检查和铁状态。
151例患者中发现3例复合杂合子、1例C282Y纯合子和1例H63D纯合子。其余146例患者中，杂合子状态的等位基因分布与新西兰普通人群相比无差异。无HFE突变：普通人群64.4%，酒精依赖患者64.4%；H63D：普通人群23.6%，酒精依赖患者28.1%；C282Y：普通人群11.9%，酒精依赖患者7.5%（P = 0.20）。研究组中肝功能检查或铁状态与HFE突变状态之间无关联。
目前未发现证据表明酒精依赖患者的HFE等位基因状态患病率与普通人群不同，或与不同的肝功能或铁状态相关。酒精依赖患者铁状态改变的原因似乎与HFE状态无关。
