Iron refractory iron deficiency anemia: presentation with hyperferritinemia and response to oral iron therapy.

ABSTRACT: Iron-refractory iron-deficiency anemia (IRIDA) is an autosomal recessive disorder caused by mutations in TMPRSS6. Patients have hypochromic microcytic anemia refractory to oral iron and are only partially responsive to parenteral iron administration. We report a French-Canadian kindred in which 2 siblings presented in early childhood with severe microcytic anemia, hypoferremia, and hyperferritinemia. Both children have been successfully treated solely with low-dose oral iron since diagnosis. Clinical and biological presentation did not fit any previously described genetic iron-deficiency anemia. Whole exome sequencing identified in both patients compound heterozygous mutations of TMPRSS6 leading to p.G442R and p.E522K, 2 mutations previously reported to cause classic IRIDA, and no addition

SUBMITTER: Khuong-Quang DA 

PROVIDER: S-EPMC3675830 | biostudies-literature | 2013 Feb

REPOSITORIES: biostudies-literature