An α-spectrin mutation responsible for hereditary elliptocytosis associated in cis with the αV/41polymorphism
✍ Scribed by N. Dalla Venezia; R. Wilmotte; L. Morlé; A. Forissier; N. Parquet; M. Garbarz; T. Rousset; D. Dhermy; N. Alloisio; J. Delaunay
- Book ID
- 104661724
- Publisher
- Springer
- Year
- 1993
- Tongue
- English
- Weight
- 501 KB
- Volume
- 90
- Category
- Article
- ISSN
- 0340-6717
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✦ Synopsis
The alpha 207 Leu-->Pro mutation in spectrin has recently been identified as a cause of alpha I/50-46a hereditary elliptocytosis (HE) or pyropoikilocytosis among Black people. We have found this mutation in a Moroccan family in both the heterozygous and homozygous states. The mutated alpha-spectrin allele carried, in cis, the alpha V/41 polymorphism, a common polymorphism altering the peptide maps and associated with a low-expression level. This is the first report of the cis combination of an HE mutation and the alpha V/41 polymorphism. Presumably, such a combination accounts for the very low expression of the abnormal allele in the heterozygous state.