Modulation of clinical expression and band 3 deficiency in hereditary spherocytosis.

@article{Alloisio1997ModulationOC,
  title={Modulation of clinical expression and band 3 deficiency in hereditary spherocytosis.},
  author={N. Alloisio and P. Texier and A. Vallier and M. Ribeiro and L. Morl{\'e} and M. Bozon and E. Bursaux and P. Maillet and P. Gonçalves and M. Tanner and G. Tamagnini and J. Delaunay},
  journal={Blood},
  year={1997},
  volume={90 1},
  pages={
          414-20
        }
}
We present two novel alleles of the anion-exchanger 1 (AE1) gene, allele Coimbra and allele Mondego. Allele Coimbra (V488M, GTG --> ATG) affects a conserved position in the putative second ectoplasmic loop of erythrocyte band 3. In 15 simple heterozygotes, it yielded a mild form of hereditary spherocytosis (HS) with band 3 deficiency (-20% +/- 2%) and a reduced number of 4,4'-diisothiocyano-1,2-diphenylethane-2,2'-disulfonate (H2DIDS) binding sites (-35%). However, two additional heterozygotes… Expand
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