title: Is the acronym IRIDA acceptable for slow responders to iron in the presence of TMPRSS6 mutations?
abstract: Iron refractory iron deficiency anemia (IRIDA) is a recently described autosomal recessive disorder caused by mutations in TMPRSS6, the gene encoding matriptase-2. Patients have inappropriately high levels of hepcidin. Hypochromic microcytic anemia refractory to oral iron and only partially responsive to parenteral iron is the hallmark of this disorder. We report six patients from three unrelated families with mutations in the TMPRSS6 gene, with three of the four identified mutations being novel. Although response to oral iron in IRIDA patients has been reported rarely before, all of our five patients receiving oral iron and our one patient supplemented with vitamin C responded to therapy at least to some extent. We think that IRIDA should be considered in the differential diagnosis of patients with findings of iron deficiency anemia responding inadequately to oral iron, particularly in countries with a high rate of consanguineous marriages like Turkey.
authors.affiliation: Division of Pediatric Hematology, Department of Pediatrics, Gazi University Faculty of Medicine, Ankara, Turkey. aertansal@hotmail.com.
authors.forename: Ebru
authors.initials: E
authors.lastname: Yilmaz-Keskin
authors.forename: Ertan
authors.initials: E
authors.lastname: Sal
authors.forename: Luigia
authors.initials: L
authors.lastname: de Falco
authors.forename: Mariasole
authors.initials: M
authors.lastname: Bruno
authors.forename: Achille
authors.initials: A
authors.lastname: Iolascon
authors.forename: Ulker
authors.initials: U
authors.lastname: Koçak
authors.forename: Idil
authors.initials: I
authors.lastname: Yenicesu
mesh_terms: D000004:Abbreviations as Topic; D018798:Anemia, Iron-Deficiency / Q000188:drug therapy / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007501:Iron / Q000627:therapeutic use; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D012697:Serine Endopeptidases / Q000235:genetics*
chemical_list: D008565:Membrane Proteins; D007501:Iron; D012697:Serine Endopeptidases; C504318:TMPRSS6 protein, human