Iron status and HFE genotype in erythrocyte pyruvate kinase deficiency: study of Italian cases.

@article{Zanella2001IronSA,
  title={Iron status and HFE genotype in erythrocyte pyruvate kinase deficiency: study of Italian cases.},
  author={Alberto Zanella and Paola Bianchi and Alessandra Iurlo and Carla Boschetti and Emanuela Taioli and Cristina Vercellati and M E Zappa and Elisa Fermo and Dario Tavazzi and Maurizio Sampietro},
  journal={Blood cells, molecules & diseases},
  year={2001},
  volume={27 3},
  pages={653-61}
}
We evaluated the iron status and searched for mutations C282Y and H63D in the hereditary hemochromatosis gene (HFE) in 34 pyruvate kinase (PK)-deficient patients from 29 unrelated families. Nine had received multiple transfusions. Thirteen of the 25 nontransfused patients displayed increased serum ferritin concentration, in the absence of conditions known to raise this parameter. HFE genotype was abnormal in 9 of 34 patients. The allele frequency was 1.8% for mutation 845G--> (C282Y) and 16.1… CONTINUE READING
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