SP(ALPHA)(I 65) HEREDITARY ELLIPTOCYTOSIS IN CALABRIA (SOUTHERN ITALY)/

Authors
QUALTIERI A BISCONTE MG PASQUA A BRIA M BRANCATI C
Citation
A. Qualtieri et al., SP(ALPHA)(I 65) HEREDITARY ELLIPTOCYTOSIS IN CALABRIA (SOUTHERN ITALY)/, Human genetics, 95(3), 1995, pp. 359-362
Citations number
16
Categorie Soggetti
Genetics & Heredity
Journal title
Human genetics → ACNP
ISSN journal
03406717
Volume
95
Issue
3
Year of publication
1995
Pages
359 - 362
Database
ISI
SICI code
0340-6717(1995)95:3<359:S6HEIC>2.0.ZU;2-3
Abstract
The alpha(I/65) variant of spectrin has been described in black people , in North Africans and recently in two southern Italian families. Thi s variant is associated in the heterozygous state with mild Hereditary Elliptocytosis (HE) and the molecular basis of the defect is invariab ly the duplication of TTG at codon 154 of the alpha spectrin gene. The present study reports the identification of five Calabrian families w ith SP alpha(I/65) HE and their distribution in the population.