Novel missense mutation in the TMPRSS6 gene in a Japanese female with iron-refractory iron deficiency anemia
Novel missense mutation in the TMPRSS6 gene in a Japanese female with iron-refractory iron deficiency anemia
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DOI：
10.1007/s12185-011-0881-0
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发表时间：
2011-07-01
影响因子：
2.1
通讯作者：
Kato, Junji
中科院分区：
文献类型：
--
作者：
Sato, Tsutomu;Iyama, Satoshi;Kato, Junji
铁难治性缺铁性贫血（IRIDA）是一种罕见的常染色体隐性遗传疾病，其特征是低色素性小红细胞贫血，低转铁蛋白饱和度，口服铁剂后部分恢复。这种疾病是由TMPRSS 6（跨膜蛋白酶丝氨酸6）突变引起的，该突变阻止了膜结合的hemojuvelin（铁调素转录的激活剂）的失活。迄今为止，在欧洲国家和美国已描述和报告了38例病例。在本文中，我们描述了第一例日本女性IRIDA，谁进行了新的突变（K253 E）在CUB（补体因子C1 r/C1 s，海胆胚胎生长因子和骨形态发生蛋白1）结构域的TMPRSS 6基因。
Iron-refractory iron deficiency anemia (IRIDA) is a rare autosomal-recessive disorder hallmarked by hypochromic microcytic anemia, low transferrin saturation, and unresponsiveness to oral iron with partial recovery after parenteral iron administration. The disease is caused by mutations in TMPRSS6 (transmembrane protease serine 6) that prevent inactivation of membrane-bound hemojuvelin, an activator of hepcidin transcription. To date, 38 cases have been characterized and reported in European countries and the United States. In this paper, we describe the first case of a Japanese female with IRIDA, who carried a novel mutation (K253E) in the CUB (complement factor C1r/C1s, urchin embryonic growth factor and bone morphogenetic protein 1) domain of the TMPRSS6 gene.