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.
authors.affiliation: Pathology Service, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.
authors.forename: Karin E
authors.initials: KE
authors.lastname: Finberg
authors.forename: Matthew M
authors.initials: MM
authors.lastname: Heeney
authors.forename: Dean R
authors.initials: DR
authors.lastname: Campagna
authors.forename: Yeşim
authors.initials: Y
authors.lastname: Aydinok
authors.forename: Howard A
authors.initials: HA
authors.lastname: Pearson
authors.forename: Kip R
authors.initials: KR
authors.lastname: Hartman
authors.forename: Mary M
authors.initials: MM
authors.lastname: Mayo
authors.forename: Stewart M
authors.initials: SM
authors.lastname: Samuel
authors.forename: John J
authors.initials: JJ
authors.lastname: Strouse
authors.forename: Kyriacos
authors.initials: K
authors.lastname: Markianos
authors.forename: Nancy C
authors.initials: NC
authors.lastname: Andrews
authors.forename: Mark D
authors.initials: MD
authors.lastname: Fleming
mesh_terms: D000293:Adolescent; D018798:Anemia, Iron-Deficiency / Q000188:drug therapy / Q000235:genetics* / Q000378:metabolism; D002648:Child; D002675:Child, Preschool; D005260:Female; D018095:Germ-Line Mutation; D006706:Homeostasis / Q000235:genetics; D006801:Humans; D007223:Infant; D007501:Iron / Q000378:metabolism* / Q000627:therapeutic use; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D017434:Protein Structure, Tertiary / Q000235:genetics; D012697:Serine Endopeptidases / Q000235:genetics*
chemical_list: D008565:Membrane Proteins; D007501:Iron; D012697:Serine Endopeptidases; C504318:TMPRSS6 protein, human