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TMPRSS6 mutations in IRIDA, and association of frequent variants with hematological parameters. |
Hématologie. Volume 17, Number 5, 357-64, Septembre-Octobre 2011, Revue
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 Résumé
Texte intégral
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Author(s) : Flavia Guillem, Bernard Grandchamp |
Summary : The transmembrane serine protease matriptase-2, encoded by the
TMPRSS6 gene, has a major role in the regulation of iron homeostasis by repressing hepcidin. Mutations of
TMPRSS6 gene are responsible for hypochromic microcytic anemia Iron Refractory Iron Deficiency Anemia (IRIDA) characterized by impaired iron absorption in the intestine resulting from a defect in hepcidin repression. Furthermore, genome wide association studies show that frequent variants of
TMPRSS6 gene are associated with hematological parameters like hemoglobin concentration and mean globular volume. Here, we will review recent informations about MT2 biology and
TMPRSS6 mutations in patients with IRIDA, and we will summarize the results of genome wide association studies showing the association of common
TMPRSS6 gene polyporphisms with hematological biological parameter. |
Keywords : IRIDA, anemia, hepcidin, matriptase-2,
TMPRSS6 |
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