Haematologica
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Haematologica, Vol 90, Issue 8, 1135-1136
Copyright © 2005 by Ferrata Storti Foundation

Case Reports

Two new glucose-6-phosphate dehydrogenase mutations causing chronic hemolysis

L Manco, P Goncalves, S Macedo-Ribeiro, C Seabra, P Melo, and ML Ribeiro

We describe two new missense mutations in the glucose-6-phosphate dehydrogenase (G6PD) gene associated with chronic hemolytic anemia: mutation 1205C-->A in exon 10 predicts the amino acid change 402Thr-->Asn in the b-sheet M of the polypeptide chain, within the dimer interface (G6PD Covao do Lobo); mutation 1366G-->A in exon 12 predicts the amino acid substitution 456Asp-->His in the a-helix N, at the protein surface (G6PD Figueira da Foz).


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L. Manco, P. Goncalves, P. Antunes, F. Maduro, A. Abade, and M. L. Ribeiro
Mutations and haplotype diversity in 70 Portuguese G6PD-deficient individuals: an overview on the origin and evolution of mutated alleles
Haematologica, December 1, 2007; 92(12): 1713 - 1714.
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