hematology and oncology
Myelodysplasia and Iron Transport Deficiency Anemia
Iron transport deficiency anemia
Iron-transport deficiency anemia (atransferrinemia) is exceedingly rare. It occurs when iron cannot move from storage sites (eg, mucosal cells, liver) to the erythropoietic precursors. One well-known form is iron-refractory iron deficiency anemia (IRIDA), caused by germline mutations in theTMPRSS6(transmembrane serine protease 6) gene, which encodes a transmembrane protein that regulates production of hepcidin, a protein involved in iron absorption. Patients have a microcytic anemia with very low transferrin saturation and are refractory to oral iron. Because hepcidin regulation is defective, hepcidin levels are inappropriately elevated despite iron deficiency. Treatment of IRIDA is usually with IV iron preparations, although only partial responses typically occur. Prolonged courses of oral iron together with vitamin C may also be attempted. 