Repository logo
 
Publication

Iron Refractory Iron Deficiency Anemia in dizygotic twins due to a novel TMPRSS6 gene mutation in addition to polymorphisms associated with high susceptibility to develop ferropenic anemia

2017-04-19Journal article Open access
Simple item page
dc.contributor.authorPinto, Joana
dc.contributor.authorNobre de Jesus, Gustavo
dc.contributor.authorPalma Anselmo, Mónica
dc.contributor.authorGonçalves, Lúcia
dc.contributor.authorBrás, Daniela
dc.contributor.authorMadeira Lopes, João
dc.contributor.authorMeneses, João
dc.contributor.authorVictorino, Rui
dc.contributor.authorFaustino, Paula
dc.date.accessioned2017-11-28T15:39:05Z
dc.date.available2017-11-28T15:39:05Z
dc.date.issued2017-04-19
dc.description.abstractIron refractory iron deficiency anemia (IRIDA) is an autosomal recessive ferropenic anemia. Its hypochromic microcytic pattern is associated with low transferrin saturation, normal-high ferritin, and inappropriately high hepcidin level. This entity is caused by mutants of the TMPRSS6 gene that encodes the protein matriptase II, which influences hepcidin expression, an iron metabolism counterregulatory protein. We report two 29-year-old dizygotic female twins with ferropenic, hypochromic microcytic anemia with 20 years of evolution, refractory to oral iron therapy. After exclusion of gastrointestinal etiologies, IRIDA diagnosis was suspected and a novel mutation in the TMPRSS6 gene was identified. It was found in intron 11 (c.1396+4A>T) and seems to affect the gene expression. In addition, 3 polymorphisms already associated with a higher risk of developing iron deficiency anemia were also found (D521D, V736A, and Y739Y). Our case reports an undescribed mutation causingIRIDA and supports the hypothesis that this clinical syndrome may be more common than previously thought and its genetics more heterogeneous than initially described.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationJ Investig Med High Impact Case Rep. 2017 Apr 19;5(2):2324709617701776. doi: 10.1177/2324709617701776. eCollection 2017 Apr-Jun.pt_PT
dc.identifier.doi10.1177/2324709617701776pt_PT
dc.identifier.issn2324-7096
dc.identifier.urihttp://hdl.handle.net/10400.18/4845
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherSAGE Publicationspt_PT
dc.relation.publisherversionhttp://journals.sagepub.com/doi/10.1177/2324709617701776pt_PT
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/pt_PT
dc.subjectAnemiapt_PT
dc.subjectRefractorypt_PT
dc.subjectIronpt_PT
dc.subjectDeficiencypt_PT
dc.subjectDoenças Genéticaspt_PT
dc.subjectDoenças Raraspt_PT
dc.subjectMetabolismo do Ferropt_PT
dc.subjectIRIDApt_PT
dc.subjectVariantes Génicaspt_PT
dc.subjectAnemia Ferropénicapt_PT
dc.titleIron Refractory Iron Deficiency Anemia in dizygotic twins due to a novel TMPRSS6 gene mutation in addition to polymorphisms associated with high susceptibility to develop ferropenic anemiapt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage4pt_PT
oaire.citation.issue2pt_PT
oaire.citation.startPage1pt_PT
oaire.citation.titleJournal of Investigative Medicine High Impact Case Reportspt_PT
oaire.citation.volume5pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

Files

Original bundle
Now showing 1 - 1 of 1
Thumbnail Image
Name:
Artigo IRIDA 2017.pdf
Size:
277.28 KB
Format:
Adobe Portable Document Format
Download
License bundle
Now showing 1 - 1 of 1
No Thumbnail Available
Name:
license.txt
Size:
1.71 KB
Format:
Item-specific license agreed upon to submission
Description:
Download

Collections

DGH - Artigos em revistas internacionais