Hemochromatosis and iron-overload screening in a racially diverse population
Hemochromatosis and iron-overload screening in a racially diverse population
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DOI：
10.1056/nejmoa041534
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发表时间：
2005-04-28
影响因子：
158.5
通讯作者：
Thomson, E
中科院分区：
文献类型：
--
作者：
Adams, PC;Reboussin, DM;Thomson, E
背景：铁超载和血色病是常见的，可治疗的条件。HFE基因型，血清铁蛋白水平，转铁蛋白饱和值，和自我报告的病史进行了研究，在多种族的初级保健population.METHODS：参与者被招募从初级保健的做法和抽血实验室。检测血液样本的转铁蛋白饱和度、血清铁蛋白以及HFE基因的C282 Y和H63 D突变。在基因筛查之前，参与者被询问是否有与铁超载相关的病史。结果：在99,711名参与者中，299名为C282 Y突变纯合子。非西班牙裔白人（0.44%）中C282 Y纯合子的估计患病率高于美洲原住民（0.11%），西班牙裔（0.027%），黑人（0.014%），太平洋岛民（0.012%）或亚洲人（0.000039%）。在C282 Y突变纯合子但未诊断出铁超载的参与者（227名参与者）中，89名男性中有78名（88%）的血清铁蛋白水平大于300微克/升，138名女性中有79名（57%）大于200微克/升。太平洋岛民和亚洲人有最高的几何平均水平的血清铁蛋白和平均转铁蛋白饱和度，尽管有最低的患病率C282 Y纯合子。有364名参与者没有被诊断出铁过载（29名C282 Y纯合子），他们的血清铁蛋白水平大于1000微克/升。在男性中，C282 Y纯合子和复合杂合子更有可能报告比没有HFE mutations.CONCLUSIONS：C282 Y突变是最常见的白人，和大多数C282 Y纯合子血清铁蛋白水平和转铁蛋白饱和度升高的肝病史。C282 Y突变不能解释非白人的高平均血清铁蛋白水平和转铁蛋白饱和值。
BACKGROUND:Iron overload and hemochromatosis are common, treatable conditions. HFE genotypes, levels of serum ferritin, transferrin saturation values, and self-reported medical history were studied in a multiethnic primary care population.METHODS:Participants were recruited from primary care practices and blood-drawing laboratories. Blood samples were tested for transferrin saturation, serum ferritin, and C282Y and H63D mutations of the HFE gene. Before genetic screening, participants were asked whether they had a history of medical conditions related to iron overload.RESULTS:Of the 99,711 participants, 299 were homozygous for the C282Y mutation. The estimated prevalence of C282Y homozygotes was higher in non-Hispanic whites (0.44 percent) than in Native Americans (0.11 percent), Hispanics (0.027 percent), blacks (0.014 percent), Pacific Islanders (0.012 percent), or Asians (0.000039 percent). Among participants who were homozygous for the C282Y mutation but in whom iron overload had not been diagnosed (227 participants), serum ferritin levels were greater than 300 microg per liter in 78 of 89 men (88 percent) and greater than 200 microg per liter in 79 of 138 women (57 percent). Pacific Islanders and Asians had the highest geometric mean levels of serum ferritin and mean transferrin saturation despite having the lowest prevalence of C282Y homozygotes. There were 364 participants in whom iron overload had not been diagnosed (29 C282Y homozygotes) who had a serum ferritin level greater than 1000 microg per liter. Among men, C282Y homozygotes and compound heterozygotes were more likely to report a history of liver disease than were participants without HFE mutations.CONCLUSIONS:The C282Y mutation is most common in whites, and most C282Y homozygotes have elevations in serum ferritin levels and transferrin saturation. The C282Y mutation does not account for high mean serum ferritin levels and transferrin saturation values in nonwhites.