Novel mutation in the TMPRSS6 gene with iron‐refractory iron deficiency anemia

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 TMPR...

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Veröffentlicht in:	Pediatrics international 2014-08, Vol.56 (4), p.e41-e44
Hauptverfasser:	Kodama, Koya, Noguchi, Atsuko, Adachi, Hiroyuki, Hebiguchi, Miwa, Yano, Michihiro, Takahashi, Tsutomu
Format:	Artikel
Sprache:	eng
Schlagworte:	Anemia Anemia, Iron-Deficiency - genetics Child Female Genetic disorders hepcidin Humans Iron iron refractory iron deficiency anemia Membrane Proteins - genetics Mutation Pediatrics Serine Endopeptidases - genetics TMPRSS6
Online-Zugang:	Volltext
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