Elliptopoikilocytosis associated with the alpha 469 His-->Pro mutation in spectrin Barcelona (alpha I/50-46b).
We present two Spanish children with hereditary elliptopoikilocytosis. The mother displayed a symptomless elliptocytosis. Spectrin maps showed the alpha I/50-46b abnormality in the mother and in the children. The change was more conspicuous in the children than in the mother. The father carried the alpha V/41 allele, which is a common allele endowed with low expression. The alpha V/41 allele was also present in the children accounting for the much more severe expression of the alpha I/50-46b variant. The responsible mutation yielding the latter appeared to be the alpha 469 His-->Pro substitution (CAT-->CCT), which is a novel abnormality. The corresponding spectrin was designated spectrin Barcelona. As is often the case in hereditary elliptocytosis or poikilocytosis related to alpha-spectrin variants, the change involved a helix 3; namely, helix 3 of repeating segment alpha 5.
Dalla Venezia
N
N
CNRS URA 1171, Faculté de Médecine Grange-Blanche, Lyon, France.
Alloisio
N
N
Forissier
A
A
Denoroy
L
L
Aymerich
M
M
Vives-Corrons
J L
JL
Besalduch
J
J
Besson
I
I
Delaunay
J
J
D000483:Alleles; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D004612:Elliptocytosis, Hereditary / Q000235:genetics* / Q000378:metabolism; D005091:Exons; D005192:Family Health; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D013030:Spain; D013049:Spectrin / Q000032:analysis / Q000235:genetics*
D013049:Spectrin