| 概要 |
Iron-refractory iron deficiency anemia (IRIDA) is a rare autosomal recessive disorder characterized by hypochromic microcytic anaemia, low transferrin saturation and high levels of the iron-regulated hormone hepcidin. The disease is caused by mutations in TMPRSS6, which encodes a type II transmembrane serine protease that regulates the expression of the hepcidin.
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| 著者 |
Finberg KE, Heeney MM, Campagna DR, Aydinok Y, Pearson HA, Hartman KR, Mayo MM, Samuel SM, Strouse JJ, Markianos K, Andrews NC, Fleming MD |
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