Iron Refractory Iron Deficiency Anemia in Dizygotic Twins Due to a Novel Gene Mutation in Addition to Polymorphisms Associated With High Susceptibility to Develop Ferropenic Anemia

• Main Authors: Joana Pinto MM (Author), Gustavo Nobre de Jesus MM (Author), Mónica Palma Anselmo MM (Author), Lúcia Gonçalves MSc (Author), Daniela Brás BSc (Author), João Madeira Lopes MD (Author), João Meneses MD (Author), Rui Victorino MD PhD (Author), Paula Faustino PhD (Author)
• Format: Book
• Published: SAGE Publishing, 2017-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...