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

Karin E Finberg; Matthew M Heeney; Dean R Campagna; Yeşim Aydinok; Howard A Pearson; Kip R Hartman; Mary M Mayo; Stewart M Samuel; John J Strouse; Kyriacos Markianos; Nancy C Andrews; Mark D Fleming

doi:10.1038/ng.130

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

Karin E Finberg, Matthew M Heeney, Dean R Campagna, Yeşim Aydinok, Howard A Pearson, Kip R Hartman, Mary M Mayo, Stewart M Samuel, John J Strouse, Kyriacos Markianos, Nancy C Andrews, Mark D Fleming

Pediatrics

Research output: Contribution to journal › Article › peer-review

600 Scopus citations

Abstract

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.

Original language	English
Pages (from-to)	569-71
Number of pages	3
Journal	Nature Genetics
Volume	40
Issue number	5
DOIs	https://doi.org/10.1038/ng.130
State	Published - May 2008

Keywords

Adolescent
Anemia, Iron-Deficiency/drug therapy
Child
Child, Preschool
Female
Germ-Line Mutation
Homeostasis/genetics
Humans
Infant
Iron/metabolism
Male
Membrane Proteins/genetics
Protein Structure, Tertiary/genetics
Serine Endopeptidases/genetics

Access to Document

10.1038/ng.130

Cite this

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title = "Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA)",

abstract = "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.",

keywords = "Adolescent, Anemia, Iron-Deficiency/drug therapy, Child, Child, Preschool, Female, Germ-Line Mutation, Homeostasis/genetics, Humans, Infant, Iron/metabolism, Male, Membrane Proteins/genetics, Protein Structure, Tertiary/genetics, Serine Endopeptidases/genetics",

author = "Finberg, {Karin E} and Heeney, {Matthew M} and Campagna, {Dean R} and Ye{\c s}im Aydinok and Pearson, {Howard A} and Hartman, {Kip R} and Mayo, {Mary M} and Samuel, {Stewart M} and Strouse, {John J} and Kyriacos Markianos and Andrews, {Nancy C} and Fleming, {Mark D}",

year = "2008",

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doi = "10.1038/ng.130",

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T1 - Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA)

AU - Finberg, Karin E

AU - Heeney, Matthew M

AU - Campagna, Dean R

AU - Aydinok, Yeşim

AU - Pearson, Howard A

AU - Hartman, Kip R

AU - Mayo, Mary M

AU - Samuel, Stewart M

AU - Strouse, John J

AU - Markianos, Kyriacos

AU - Andrews, Nancy C

AU - Fleming, Mark D

PY - 2008/5

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N2 - 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.

AB - 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.

KW - Adolescent

KW - Anemia, Iron-Deficiency/drug therapy

KW - Child

KW - Child, Preschool

KW - Female

KW - Germ-Line Mutation

KW - Homeostasis/genetics

KW - Humans

KW - Infant

KW - Iron/metabolism

KW - Male

KW - Membrane Proteins/genetics

KW - Protein Structure, Tertiary/genetics

KW - Serine Endopeptidases/genetics

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DO - 10.1038/ng.130

M3 - Article

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SN - 1061-4036

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JO - Nature Genetics

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