Adams Paul C, Passmore Leah, Chakrabarti Subrata, Reboussin David M, Acton Ronald T, Barton James C, McLaren Gordon D, Eckfeldt John H, Dawkins Fitzroy W, Gordeuk Victor R, Harris Emily L, Leiendecker-Foster Catherine, Gossman Elaine, Sholinsky Phyliss
Department of Medicine, University Hospital, 339 Windermere Road, London, Ontario, Canada N6A 5A5.
Clin Gastroenterol Hepatol. 2006 Jul;4(7):918-23; quiz 807. doi: 10.1016/j.cgh.2006.04.013.
The Hemochromatosis and Iron Overload Screening (HEIRS) Study screened 101,168 primary care participants for iron overload with serum transferrin saturation (TS), ferritin, and C282Y and H63D mutations of the HFE gene.
All C282Y homozygotes and participants with an increased TS (>45% women, >50% men) and serum ferritin level (> 200 microg/L women, >300 microg/L men) were recalled for a clinical history and physical examination, and blood tests including alanine transaminase (ALT) and aspartate transaminase levels. Hepatitis B surface antigen and anti-hepatitis C virus were measured if the ALT level was increased (>31 IU/L in women, >40 IU/L in men).
In the group of participants selected to return for clinical examination because of increased TS and ferritin levels, ALT increases and anti-hepatitis C virus were found in 95 of 284 (33%) African Americans, 50 of 466 (11%) Asian and Pacific Islanders, 21 of 120 (18%) Hispanics, and 40 of 477 (8.4%) Caucasians. ALT increases and hepatitis B surface antigen were detected in 24 of 466 (5%) Asian and Pacific Islanders, 10 of 284 (3.5%) African Americans, 3 of 120 (2.5%) Hispanics, and 2 of 477 (.42%) Caucasians. Of 86 liver biopsy specimens obtained for clinical purposes, 53 were reviewed by a single study pathologist. Liver fibrosis (stage 3 or 4) was present in 2 of 11 (18.2%) C282Y homozygotes that underwent central review and 2 of 302 (.66%) C282Y homozygotes attending the clinical examination.
Screening for iron overload with ferritin and TS detects persons with viral hepatitis and other types of liver disease. A minimum of .66% C282Y homozygotes have liver fibrosis.
血色素沉着症及铁过载筛查（HEIRS）研究对101,168名初级保健参与者进行了铁过载筛查，检测指标包括血清转铁蛋白饱和度（TS）、铁蛋白以及HFE基因的C282Y和H63D突变。
所有C282Y纯合子以及TS升高（女性>45%，男性>50%）且血清铁蛋白水平升高（女性>200μg/L，男性>300μg/L）的参与者均被召回进行临床病史采集、体格检查以及包括丙氨酸转氨酶（ALT）和天冬氨酸转氨酶水平在内的血液检测。若ALT水平升高（女性>31 IU/L，男性>40 IU/L），则检测乙肝表面抗原和抗丙型肝炎病毒。
在因TS和铁蛋白水平升高而被选回来进行临床检查的参与者组中，284名非裔美国人中有95名（33%）ALT升高且抗丙型肝炎病毒呈阳性，466名亚裔和太平洋岛民中有50名（11%），120名西班牙裔中有21名（18%），477名白种人中有40名（8.4%）。466名亚裔和太平洋岛民中有24名（5%）ALT升高且乙肝表面抗原呈阳性，284名非裔美国人中有10名（3.5%），120名西班牙裔中有3名（2.5%），477名白种人中有2名（0.42%）。在为临床目的获取的86份肝活检标本中，由一名研究病理学家对其中53份进行了复查。在接受集中复查的11名C282Y纯合子中有2名（18.2%）存在肝纤维化（3期或4期），在参加临床检查的302名C282Y纯合子中有2名（0.66%）存在肝纤维化。
用铁蛋白和TS筛查铁过载可检测出患有病毒性肝炎和其他类型肝病的人。至少0.66%的C282Y纯合子存在肝纤维化。
