First Observation of Two TMPRSS6 Gene Mutations (G603R and K636AFSX17) in Turkish Population
Makaleler > Tam Makale · 2019
Yazarlar: Akisin Yasemin Ardicoglu, Kurt Gulnaz, Onay Hüseyin, Özkinay Ferda, Akar Nejat
International Journal of Blood Research and Disorders, Uluslararası, 2019, cilt 6
DOI: 10.23937/2469-5696/1410046
Özet
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.