A mutation in the TMPRSS6 gene, encoding a transmembrane serine protease that suppresses hepcidin production, in familial iron deficiency anemia refractory to oral iron.

@article{Melis2008AMI,
  title={A mutation in the TMPRSS6 gene, encoding a transmembrane serine protease that suppresses hepcidin production, in familial iron deficiency anemia refractory to oral iron.},
  author={Maria Antonietta Melis and Milena Cau and Rita Congiu and Gabriella Sole and Susanna Barella and Antonio Cao and Mark E. Westerman and Mario Cazzola and Renzo Galanello},
  journal={Haematologica},
  year={2008},
  volume={93 10},
  pages={1473-9}
}
BACKGROUND Hepcidin plays a key role in body iron metabolism by preventing the release of iron from macrophages and intestinal cells. Defective hepcidin synthesis causes iron loading, while overproduction results in defective reticuloendothelial iron release and iron absorption. DESIGN AND METHODS We studied a Sardinian family in which microcytic anemia due to defective iron absorption and utilization is inherited as a recessive character. Five members showed iron deficiency anemia that was… CONTINUE READING

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