Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA)

被引：502

作者：

Finberg, Karin E. ^{[1
,13
]}

Heeney, Matthew M. ^{[2
,13
]}

Campagna, Dean R. ^{[3
]}

Aydinok, Yesim ^{[4
]}

Pearson, Howard A. ^{[5
]}

Hartman, Kip R. ^{[6
]}

Mayo, Mary M. ^{[7
]}

Samuel, Stewart M. ^{[8
]}

Strouse, John J. ^{[9
]}

Markianos, Kyriacos ^{[10
,11
]}

Andrews, Nancy C. ^{[11
,13
]}

Fleming, Mark D. ^{[12
]}

机构：

[1] Massachusetts Gen Hosp, Pathol Serv, Boston, MA 02114 USA

[2] Dana Farber Canc Inst, Dept Pediat Oncol, Boston, MA 02115 USA

[3] Childrens Hosp, Dept Pathol, Boston, MA 02115 USA

[4] Ege Univ, Fac Med, Dept Pediat Hematol, TR-35100 Izmir, Turkey

[5] Yale Univ, Sch Med, Dept Pediat, New Haven, CT 06520 USA

[6] Uniformed Serv Univ Hlth Sci, Dept Pediat, Bethesda, MD 20814 USA

[7] St Louis Univ, Sch Med, Dept Pathol, St Louis, MO 63104 USA

[8] Pediat Hlth Associates PC, New York, NY 11803 USA

[9] Johns Hopkins Univ, Sch Med, Dept Pediat, Div Pediat Hematol, Baltimore, MD 21205 USA

[10] Childrens Hosp, Program Genom, Boston, MA 02115 USA

[11] Harvard Univ, Sch Med, Dept Pediat, Boston, MA 02115 USA

[12] Harvard Univ, Sch Med, Dept Pathol, Boston, MA 02115 USA

[13] Childrens Hosp, Div Hematol Oncol, Boston, MA 02115 USA

来源：

NATURE GENETICS | 2008年 / 40卷 / 05期

关键词：

D O I：

10.1038/ng.130

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：569 / 571

页数：3

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