Iron refractory iron deficiency anemia

摘要: Iron refractory iron deficiency anemia is a hereditary recessive due to defect in the TMPRSS6 gene encoding Matriptase-2. This protein transmembrane serine protease that plays an essential role down-regulating hepcidin, key regulator of homeostasis. Hallmarks this disease are microcytic hypochromic anemia, low transferrin saturation and normal/high serum hepcidin values. The appears post-natal period, although some cases it only diagnosed adulthood. oral treatment but shows slow response intravenous injections partial correction anemia. To date, 40 different Matriptase-2 mutations have been reported, affecting all functional domains large ectodomain protein. In vitro experiments on transfected cells suggest cleaves Hemojuvelin, major expression function altered genetic form contrast low/undetectable levels observed acquired deficiency, patients with inappropriately high for status accounts absent/delayed treatment. A challenge clinicians pediatricians recognition disorder among other anemias commonly found pediatric patients. current based parenteral administration; future, manipulation pathway aim suppressing might become alternative therapeutic approach.