We herein report a Korean female with IRIDA who was compound heterozygous for two mutations in TMPRSS6: a novel missense mutation c.1807G&gt;C (p.Gly603Arg) in the serine protease domain and a known splicing mutation c.863+1G&gt;T (IVS6+1G&gt;T).
C0085576
Iron-Refractory Iron Deficiency Anemia