Iron-refractory iron deficiency anemia in children: first genetically confirmed cases in Russia

Iron-refractory iron deficiency anemia (IRIDA) is a rare inherited disorder caused by a defect in the TMPRSS6 gene. The loss of TMPRSS6 function causes iron deficiency due to abnormally high hepcidin levels, accompanied by significantly reduced iron absorption and iron sequestration in macrophages. IRIDA patients are refractory to oral iron treatment but partially respond to intravenous iron supplementation therapy. Here, we present two first genetically confirmed IRIDA cases in Russia. Both girls were under care of a hematologist for chronic iron deficiency anemia with no response to oral iron therapy and a partial response to parenteral iron therapy. The patients' parents gave consent to the use of their children's data, including photographs, for research purposes and in publications. IRIDA was suspected, and genetic analysis of mutations in the TMPRSS6 gene confirmed the diagnosis of IRIDA. Thus, IRIDA is one of the differential diagnosis to bear in mind in cases of hypochromic microcytic anemia in pediatric patients with an inadequate response to iron therapy. To confirm IRIDA, TMPRSS6 gene sequence analysis should be performed.