Abstract
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).
Copyright © 2011 Wiley Periodicals, Inc.
Publication types
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Case Reports
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Research Support, Non-U.S. Gov't
MeSH terms
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Amino Acid Substitution*
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Anemia, Iron-Deficiency / enzymology
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Anemia, Iron-Deficiency / genetics*
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Antimicrobial Cationic Peptides / biosynthesis
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Antimicrobial Cationic Peptides / genetics
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Asian People
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Child
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Female
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GPI-Linked Proteins / genetics
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GPI-Linked Proteins / metabolism
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Genetic Diseases, Inborn / enzymology
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Genetic Diseases, Inborn / genetics*
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Hemochromatosis Protein
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Hepcidins
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Humans
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Membrane Proteins / genetics*
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Membrane Proteins / metabolism
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Mutation, Missense*
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RNA Splice Sites / genetics
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Republic of Korea
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Serine Endopeptidases / genetics*
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Serine Endopeptidases / metabolism
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Transcription, Genetic / genetics
Substances
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Antimicrobial Cationic Peptides
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GPI-Linked Proteins
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HAMP protein, human
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HJV protein, human
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Hemochromatosis Protein
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Hepcidins
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Membrane Proteins
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RNA Splice Sites
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Serine Endopeptidases
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TMPRSS6 protein, human