Mild elliptocytosis associated with the alpha 34 Arg-->Trp mutation in
spectrin Genova (alpha I/74)
S Perrotta, E Miraglia del Giudice, N Alloisio, G Sciarratta, L Pinto, J Delaunay, S Cutillo and A Iolascon
Department of Pediatrics, University of Naples, Italy.
We report a new mutation responsible for nonhemolytic hereditary
elliptocytosis (HE). The proband displayed an impaired spectrin self-
association and an increase of the alpha I 74-kD fragment (alpha I/74
abnormality). The responsible mutation occurred in exon 2 of spectrin
alpha-gene: alpha 34 Arg-->Trp (CGG-->TGG), defining spectrin Genova.
In Trans to allele alpha Genova, the proband disclosed allele alpha LELY, a
common low-expression allele of spectrin alpha-gene. It was recognized
through particular peptide maps as well as characteristic mutations in exon
40 and intron 45, respectively. The father, who carried allele alpha
Genova, but not allele alpha LELY, had a milder presentation. The
sensitization of allele alpha Genova by allele alpha LELY was noticeable in
the proband as compared with his father. Nevertheless, it was not as sharp
as that observed with many other alpha I/74 HE alleles. Therefore, each
alpha I/74 HE allele has a distinct intrinsic severity.
Volume 83,
Issue 11,
pp. 3346-3349,
06/01/1994
Copyright © 1994 by The American Society of Hematology
