Iron-Refractory Iron Deficiency Anemia (IRIDA) via the TMPRSS6 Gene

Laboratory findings indicative of IRIDA include decreased Hb (6-10.5 g/dL), MCV (46-68 fL), MCH (12-20 pg), transferrin saturation (3-9%), and elevated soluble transferring receptor (6-25 mg/L) and serum hepcidin levels (5-18 nM). Other indicators for IRIDA are unresponsiveness to oral iron with partial recovery after parenteral iron administration and microcytic hypochromic anemia. Serum ferritin levels are usually within normal range (De Falco et al. 2010). This test may also be considered for the reproductive partners of individuals who carry pathogenic variants in TMPRSS6.