Autosomal dominant hereditary hemochromatosis associated with two novel Ferroportin 1 mutations in Spain
Autosomal dominant hereditary hemochromatosis associated with two novel Ferroportin 1 mutations in Spain
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DOI：
10.1016/j.bcmd.2005.09.001
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发表时间：
2006-01-01
影响因子：
2.3
通讯作者：
Baiget, M
中科院分区：
文献类型：
--
作者：
Bach, V;Remacha, A;Baiget, M
遗传性血色素沉着病是一种常见的铁代谢疾病，最常与HFE基因突变有关。遗传性血色素沉着症可能由其他基因突变引起，包括SLC40A1基因突变。本报告描述了两个西班牙家族的临床和实验室结果，他们常染色体显性铁超载与以前未被识别的铁转运蛋白I突变（p.R88T和p.r 180t）有关。携带这些突变的患者的铁超载表型可能对应于失去铁输出功能的临床突变组。(c) 2005爱思唯尔公司版权所有。
Hereditary hemochroinatosis is a common disorder of iron metabolism most frequently associated with mutations in the HFE gene. Hereditary hemochromatosis may be caused by other genetic mutations including those in the SLC40A1 gene. This report describes the clinical and laboratory findings of two Spanish families with autosomal dominant iron overload associated with previously unrecognized Ferroportin I mutations (p.R88T and p.I180T). The phenotype of iron overload in the patients carrying these mutations could correspond to the group of clinical mutations that lose their iron export function. (c) 2005 Elsevier Inc. All rights reserved.