HFE Genotype, Ferritin Levels and Transferrin Saturation in Patients with Suspected Hereditary Hemochromatosis.
HFE Genotype, Ferritin Levels and Transferrin Saturation in Patients with Suspected Hereditary Hemochromatosis.
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怀疑的遗传性血色素症患者的HFE基因型，铁蛋白水平和转移蛋白饱和度。
DOI：
10.3390/genes12081162
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发表时间：
2021-07-28
期刊：
影响因子：
3.5
通讯作者：
Reikvam H
中科院分区：
文献类型：
--
作者：
Sandnes M;Vorland M;Ulvik RJ;Reikvam H
HFE血色素沉着症的特征是由于铁调节HFE基因的变体引起的铁吸收增加和铁过载。显性疾病主要与C282 Y变异的纯合性相关，尽管与C282 Y复合杂合性的H63 D变异（C282 Y/H63 D）有助于疾病表现。在这项观察性研究中，我们描述了生化结果，年龄，性别和HFE基因型之间的关联，从全科医生转介到三级保健转诊中心进行诊断检查的基础上怀疑血色素沉着症由于持续性高铁蛋白血症和HFE变异。C282 Y和H63 D纯合性，分别是最流行和最不流行的基因型，我们发现转铁蛋白饱和度和铁蛋白水平的相当大的变化独立于HFE基因型，这可能确实是一个诊断的挑战，在一般的做法。虽然我们的结果证实C282 Y纯合子是铁积累的主要原因，但非C282 Y纯合子也显示轻度至中度高铁蛋白血症，中位铁蛋白水平为500-700 µg/L，远高于参考截止值。这些发现在临床上一直被忽视，铁缺乏的发生主要局限于C282 Y纯合子。然而，过量的铁可与其他疾病和危险因素，如炎症，癌症和肝病相结合，加重发病机制，这种可能性不应被临床医生忽视。
HFE hemochromatosis is characterized by increased iron absorption and iron overload due to variants of the iron-regulating HFE gene. Overt disease is mainly associated with homozygosity for the C282Y variant, although the H63D variant in compound heterozygosity with C282Y (C282Y/H63D) contributes to disease manifestation. In this observational study, we describe the association between biochemical findings, age, gender and HFE genotype in patients referred from general practice to a tertiary care referral center for diagnostic workup based on suspected hemochromatosis due to persistent hyperferritinemia and HFE variants. C282Y and H63D homozygosity were, respectively, the most and least prevalent genotypes and we found a considerable variation in transferrin saturation and ferritin levels independent of HFE genotype, which may indeed represent a diagnostic challenge in general practice. While our results confirm C282Y homozygosity as the major cause of iron accumulation, non-C282Y homozygotes also displayed mild to moderate hyperferritinemia with median ferritin levels at 500–700 µg/L, well above the reference cut-off. Such findings have traditionally been ignored in the clinic, and initiation of iron depletion has largely been restricted to C282Y homozygotes. Nevertheless, superfluous iron can aggravate pathogenesis in combination with other diseases and risk factors, such as inflammation, cancer and hepatopathy, and this possibility should not be neglected by clinicians.
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影响因子：
6.6
作者：
Franchini, Massimo;Targher, Giovanni;Capra, Franco;Montagnana, Martina;Lippi, Giuseppe
通讯作者：
Lippi, Giuseppe
影响因子：
25.7
作者：
Pietrangelo, Antonello;Deugnier, Yves;Safadi, Rifaat
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Safadi, Rifaat
影响因子：
29.4
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Gurrin, Lyle C.;Osborne, Nicholas J.;Allen, Katrina J.
通讯作者：
Allen, Katrina J.
影响因子：
29.4
作者：
McLaren, CE;McLachlan, GJ;Powell, LW
通讯作者：
Powell, LW
影响因子：
158.5
作者：
Adams, PC;Reboussin, DM;Thomson, E
通讯作者：
Thomson, E