Fourth Department of Internal Medicine, Sapporo Medical University School of Medicine, South-1, West-16, Chuo-ku, Sapporo, 060-8543, Japan.
Int J Hematol. 2011 Jul;94(1):101-103. doi: 10.1007/s12185-011-0881-0. Epub 2011 Jun 4.
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.
铁难治性缺铁性贫血（IRIDA）是一种罕见的常染色体隐性遗传病，其特征为低色素性小细胞性贫血、转铁蛋白饱和度低、口服铁剂治疗无反应，但经静脉补铁后部分缓解。该疾病是由 TMPRSS6（跨膜丝氨酸蛋白酶 6）基因突变引起的，该突变阻止了膜结合的血红素结合蛋白（hepcidin 转录的激活剂）的失活。迄今为止，已在欧洲国家和美国描述和报道了 38 例病例。本文描述了首例日本女性 IRIDA 病例，该患者 TMPRSS6 基因的 CUB（补体因子 C1r/C1s、海胆胚胎生长因子和骨形态发生蛋白 1）结构域中存在一种新的突变（K253E）。
