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

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 encod...

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Detalhes bibliográficos
Publicado no:J Investig Med High Impact Case Rep
Main Authors: Pinto, Joana, Nobre de Jesus, Gustavo, Palma Anselmo, Mónica, Gonçalves, Lúcia, Brás, Daniela, Madeira Lopes, João, Meneses, João, Victorino, Rui, Faustino, Paula
Formato: Artigo
Idioma:Inglês
Publicado em: SAGE Publications 2017
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5405884/
https://ncbi.nlm.nih.gov/pubmed/28491880
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/2324709617701776
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