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Modulation of Clinical Expression and Band 3 Deficiency in Hereditary Spherocytosis
N. Alloisio,
P. Texier,
A. Vallier,
M.L. Ribeiro,
L. Morlé,
M. Bozon,
E. Bursaux,
P. Maillet,
P. Gonçalves,
M.J.A. Tanner,
G. Tamagnini, and
J. Delaunay
From the Laboratoire de Génétique Moléculaire Humaine, Centre National de la Recherche Scientifique, URA 1171, Institut Pasteur de Lyon, Lyon, France; Serviço de Hematologia, Centro Hospitalar de Coimbra, Coimbra, Portugal; Institut National de la Santé et de la Recherche Médicale U299, Hôpital de Bicêtre, Le Kremlin-Bicêtre, France; and Department of Biochemistry, School of Medical Sciences, Bristol, UK.
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 presented with an aggravated HS and a more pronounced reduction of band 3 (-40%) and of H2DIDS binding sites (-48%). They carried, in trans to allele Coimbra, allele Mondego, defined by two mutations: E40K, GAG AAG, the known mutation Montefiore, and P147S, CCT TCT, a novel mutation, both located in the cytoplasmic domain of band 3. Allele Mondego itself resulted in no clinical or hematologic HS signs in the simple heterozygous state. Yet it yielded a slight decrease in band 3 (-6% to -12%) and in the number of H2DIDS binding sites (-19%). Thus, the more pronounced decrease in band 3 in the two compound heterozygotes derived from the additive effects of two unequally expressed AE1 alleles, resulting in a more severe clinical picture.
Blood, Vol. 90 No. 1 (July 1), 1997:
pp. 414-420
© 1997 by The American Society of Hematology.
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