IRIDA- An Indian perspective

Abstract

Iron deficiency anemia (IDA) is the most common type of anemia globally (IDA), the treatment being iron supplementation. However, in a few individuals, there is absent to suboptimal response to iron supplementation due to iron not being taken up by the body of the individual. This condition is known as iron-refractory IDA (IRIDA). Iron refractory iron deficiency anemia is a rare genetic condition that follows an autosomal recessive inheritance due to a defect in the TMPRSS6 gene encoding Matriptase-2. This protein is a transmembrane serine protease that plays an essential role in down-regulating hepcidin, the key regulator of iron homeostasis. Hallmarks of this disease are microcytic hypochromic anemia, low transferrin saturation, and normal/high serum hepcidin values. The anemia appears in the post-natal period, although in some cases it is only diagnosed in adulthood. The disease is refractory to oral iron treatment but shows a slow response to intravenous iron injections and partial correction of the anemia. This condition is likely being missed or under-diagnosed in our iron deficient endemic setting due to a lack of general awareness amongst physicians in establishing the diagnosis or due to the lack of availability of proper genetic testing.