Iron refractory iron deficiency anemia is an autosomal recessive disorder arising from defects in iron metabolism that cause microcytic anemia to grow resistant to treatment. The patients usually do not respond to orally administered iron treatment and partially respond to intravenous iron administration. Mutations of TMPRSS6 gene which encodes matriptase-2 are the main cause of the disorder. Here, we describe the case of a 6-month-old Syrian boy who had hypochromic-microcytic anemia and normal ferritin levels at presentation. The patient did not respond to 1 month of iron therapy and his hemoglobin levels increased only after red blood cell transfusion. Mutation analysis demonstrated a novel 374 base pairs homozygote deletion spanning exon 15 of TMPRSS6 gene. Our results expand the mutation spectrum of TMPRSS6 gene in iron refractory iron deficiency anemia.
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