作者: Ebru Yilmaz Keskin
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摘要: Iron is essential for life because it indispensable several biological reactions, such as oxygen transport, DNA synthesis, and cell proliferation. Over the past few years, our understanding of iron metabolism its regulation has changed dramatically. New disorders have emerged, role a cofactor in other begun to be recognized. The study genetic conditions hemochromatosis iron-refractory deficiency anemia (IRIDA) provided crucial insights into molecular mechanisms controlling homeostasis. In future, these advances may exploited improve treatment both acquired disorders. IRIDA caused by mutations TMPRSS6, gene encoding matriptase-2, which downregulates hepcidin expression under deficiency. typical features this disorder are hypochromic, microcytic with very low mean corpuscular volume erythrocytes, transferrin saturation, no (or inadequate) response oral iron, only partial parenteral iron. contrast classic anemia, serum ferritin levels usually low-normal, or urinary inappropriately high degree anemia. Although number cases reported thus far literature does not exceed 100, considered most common “atypical” anemias. aim review share current knowledge on increase awareness field.