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Novel mutation in the TMPRSS 6 gene with iron‐refractory iron deficiency anemia
Author(s) -
Kodama Koya,
Noguchi Atsuko,
Adachi Hiroyuki,
Hebiguchi Miwa,
Yano Michihiro,
Takahashi Tsutomu
Publication year - 2014
Publication title -
pediatrics international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.49
H-Index - 63
eISSN - 1442-200X
pISSN - 1328-8067
DOI - 10.1111/ped.12395
Subject(s) - medicine , microcytic anemia , hepcidin , anemia , transferrin saturation , ferritin , serum iron , hypochromic anemia , gene mutation , iron deficiency anemia , transferrin , tmprss6 , mutation , iron deficiency , endocrinology , immunology , gene , biochemistry , biology , serine protease , protease , enzyme
Iron‐refractory iron deficiency anemia ( IRIDA ) is a rare autosomal recessive disease characterized by congenital hypochromic microcytic anemia, low transferrin saturation, low serum iron, normal–high serum ferritin, and increased hepcidin. This disease is caused by loss‐of‐function mutations in TMPRSS 6 that lead to high hepcidin and result in severe anemia. We report our experience with an 11‐year‐old J apanese girl with hypochromic microcytic anemia, low serum iron, and high serum ferritin, with anemia that was refractory to the oral iron that was prescribed frequently from early childhood. Presence of high hepcidin suggested a diagnosis of IRIDA , which was eventually confirmed by identification of a novel homozygous mutation, p. P ro354 L eu, in the TMPRSS 6 gene. This case suggests that serum hepcidin should be routinely measured for differential diagnosis when patients with IDA are unresponsive to oral iron or have unusual clinical features.