First Observation of Two TMPRSS6 Gene Mutations (G603R and K636AFSX17) in Turkish Population

Abstract

Introduction: Iron is one of the elements that participate numerous reaction on the body and the structure of hemoglobin to the purpose of carrying oxygen to the tissues. Thus, iron deficiency causes different problems in the body. Iron-refractory iron deficiency anemia (IRIDA) is a genetic disorder that has some signs of iron deficiency anemia (IDA) but refractory to oral iron and partially refractory to intravenous iron. The mutation in TMPRSS6 gene causes matriptase-2 protein deficiency that negatively regulates hepcidin molecule. Thus, increasing hepcidin connects its receptor ferroportin and decreases iron absorption. Consequently, IRIDA appears. Case description:Here we present a 7.5-years-old girl who was followed for three years with the clinical diagnosis of iron-refractory iron deficiency anemia, and mutations on TMPRSS6 gene. Conclusion:After excluding the other iron deficiency causes, IRI-DA and the mutations on TMPRSS6 gene should be kept in mind in patients with low transferrin saturation, normal levels of the ferritin, high levels of the hepcidin molecules and family history about iron deficiency anemia.