Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.18/4845
Título: 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
Autor: Pinto, Joana
Nobre de Jesus, Gustavo
Palma Anselmo, Mónica
Gonçalves, Lúcia
Brás, Daniela
Madeira Lopes, João
Meneses, João
Victorino, Rui
Faustino, Paula
Palavras-chave: Anemia
Refractory
Iron
Deficiency
Doenças Genéticas
Doenças Raras
Metabolismo do Ferro
IRIDA
Variantes Génicas
Anemia Ferropénica
Data: 19-Abr-2017
Editora: SAGE Publications
Citação: J Investig Med High Impact Case Rep. 2017;5(2):2324709617701776.
Resumo: Iron 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.
Peer review: yes
URI: http://hdl.handle.net/10400.18/4845
DOI: 10.1177/2324709617701776
ISSN: 2324-7096
Versão do Editor: http://journals.sagepub.com/doi/10.1177/2324709617701776
Aparece nas colecções:DGH - Artigos em revistas internacionais

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