Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA)
Küçük Resim Yok
Tarih
2008
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Iron deficiency is usually attributed to chronic blood loss or inadequate dietary intake. Here, we show that iron deficiency anemia refractory to oral iron therapy can be caused by germline mutations in TMPRSS6, which encodes a type II transmembrane serine protease produced by the liver that regulates the expression of the systemic iron regulatory hormone hepcidin. These findings demonstrate that TMPRSS6 is essential for normal systemic iron homeostasis in humans. © 2008 Nature Publishing Group.
Açıklama
Anahtar Kelimeler
Kaynak
Nature Genetics
WoS Q Değeri
Scopus Q Değeri
Q1
Cilt
40
Sayı
5
