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Title of Journal: Int J Hematol

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Abbravation: International Journal of Hematology

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Springer Japan

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DOI

10.1002/adma.19960080607

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1865-3774

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Novel missense mutation in the TMPRSS6 gene in a J

Authors: Tsutomu Sato Satoshi Iyama Kazuyuki Murase Yusuke Kamihara Kaoru Ono Shohei Kikuchi Kohichi Takada Koji Miyanishi Yasushi Sato Rishu Takimoto Masayoshi Kobune Junji Kato
Publish Date: 2011/06/04
Volume: 94, Issue: 1, Pages: 101-103
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Abstract

Ironrefractory iron deficiency anemia IRIDA is a rare autosomalrecessive 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 membranebound 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

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