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Iron-refractory iron deficiency anemia (IRIDA) cases with 2 novel TMPRSS6 mutations

ABSTRACT Iron-refractory iron deficiency anemia (IRIDA) is a rarely diagnosed autosomal recessive disorder that presents with hypochromic, microcytic anemia due to mutations in TMPRSS6, which encodes matriptase-2. Contrary to classical iron deficiency anemia, serum hepcidin levels are found to be elevated in this disorder. Here, we report 5 cases from 4 unrelated families with inadequate response to iron therapy, who were consequently diagnosed as IRIDA. The mean age of the cases at diagnosis was 5.0 years (range: 0.7–11.3 years). All cases were either homozygous or compound heterozygous for missense or frameshift mutations in the TMPRSS6 gene, 2 of the mutations being novel (Cys410Ser and Leu689Pro). IRIDA should be considered in patients with findings of iron deficiency anemia unresponsive to oral iron therapy, whose serum ferritin levels are found normal or elevated.