This article was published online on May 25, 2011. An error was subsequently identified. This notice is included in the online and print versions to indicate that both have been corrected Nov. 15, 2011.
Article first published online: 25 MAY 2011
Copyright © 2011 Wiley Periodicals, Inc.
Pediatric Blood & Cancer
Volume 58, Issue 4, pages 640–642, April 2012
How to Cite
Choi, H. S., Yang, H. R., Song, S. H., Seo, J.-Y., Lee, K.-O. and Kim, H.-J. (2012), A novel mutation Gly603Arg of TMPRSS6 in a Korean female with iron-refractory iron deficiency anemia. Pediatr. Blood Cancer, 58: 640–642. doi: 10.1002/pbc.23190
Conflict of interest: Nothing to declare.
- Issue published online: 13 FEB 2012
- Article first published online: 25 MAY 2011
- Manuscript Accepted: 11 APR 2011
- Manuscript Received: 18 FEB 2011
- SNUBH Research Fund. Grant Number: 11-2010-014
- Samsung Biomedical Research Institute. Grant Number: D-A9-002-1
Vol. 59, Issue 7, 1336, Article first published online: 9 OCT 2012
- iron-refractory iron deficiency anemia;
Iron-refractory iron deficiency anemia (IRIDA) is a rare hereditary form of IDA with autosomal recessive inheritance. IRIDA is characterized by hypochromic microcytic anemia unresponsive to oral iron treatment, low transferrin saturation, and a high level of iron-regulated hormone hepcidin. The genetic background of IRIDA is mutations in the TMPRSS6 gene encoding matriptase-2 (TMPRSS6) that prevent inactivation of hemojuvelin, an activator of hepcidin transcription. We herein report a Korean female with IRIDA who was compound heterozygous for two mutations in TMPRSS6: a novel missense mutation c.1807G>C (p.Gly603Arg) in the serine protease domain and a known splicing mutation c.863+1G>T (IVS6+1G>T). Pediatr Blood Cancer 2012; 58: 640–642. © 2011 Wiley Periodicals, Inc.