Brief Communication abstract
Nature Genetics 40, 569 - 571 (2008)
Published online: 13 April 2008 | doi:10.1038/ng.130
Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA)
Karin E Finberg1,2,14,
Matthew M Heeney2,3,15,
Dean R Campagna4,15,
Ye
im Ayd
nok5,
Howard A Pearson6,
Kip R Hartman7,
Mary M Mayo8,
Stewart M Samuel9,
John J Strouse10,
Kyriacos Markianos11,12,
Nancy C Andrews2,12,14,16
&
Mark D Fleming4,13,16
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.
- Pathology Service, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.
- Division of Hematology/Oncology, Children's Hospital Boston, Boston, Massachusetts 02115, USA.
- Department of Pediatric Oncology, Dana-Farber Cancer Institute, Boston, Massachusetts 02115, USA.
- Department of Pathology, Children's Hospital Boston, Boston, Massachusetts 02115, USA.
- Department of Pediatric Hematology, Ege University Faculty of Medicine, 35100 Bornova, Izmir, Turkey.
- Department of Pediatrics, Yale School of Medicine, New Haven, Connecticut 06520, USA.
- Department of Pediatrics, Uniformed Services University of the Health Sciences, Bethesda, Maryland 20814, USA.
- Department of Pathology, Saint Louis University School of Medicine, St. Louis, Missouri 63104, USA.
- Pediatric Health Associates, P.C., Plainview, New York 11803, USA.
- Division of Pediatric Hematology, Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA.
- Program in Genomics, Children's Hospital Boston, Boston, Massachusetts 02115, USA.
- Department of Pediatrics, Harvard Medical School, Boston, Massachusetts 02115, USA.
- Department of Pathology, Harvard Medical School, Boston, Massachusetts 02115, USA.
- Present addresses: Department of Pathology, Duke University School of Medicine, Durham, North Carolina 27710, USA (K.E.F.) and Department of Pediatrics and Department of Pharmacology and Cancer Biology, Duke University School of Medicine, Durham, North Carolina 27710, USA (N.C.A.)
- These authors contributed equally to this work.
- These authors contributed equally to this work.
Correspondence to: Nancy C Andrews2,12,14,16 e-mail: Nancy.Andrews@duke.edu
Correspondence to: Mark D Fleming4,13,16 e-mail: Mark.Fleming@childrens.harvard.edu
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