A novel mutation Gly603Arg of TMPRSS6 in a Korean female with iron-refractory iron deficiency anemia

作者：Choi Hyoung Soo; Yang Hye Ran; Song Sang Hoon; Seo Ja Young; Lee Ki O; Kim Hee Jin^*

来源：PEDIATRIC BLOOD %26 CANCER, 2012, 58(4): 640-642.

DOI：10.1002/pbc.23190

• iron-refractory iron deficiency anemia
• mutation
• TMPRSS6

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%26gt;C (p.Gly603Arg) in the serine protease domain and a known splicing mutation c.863+1G%26gt;T (IVS6+1G%26gt;T). Pediatr Blood Cancer 2012; 58: 640642.

• 出版日期2012-4