title: SP alpha I/65 hereditary elliptocytosis in Calabria (southern Italy).
abstract: The alpha I/65 variant of spectrin has been described in black people, in North Africans and recently in two southern Italian families. This variant is associated in the heterozygous state with mild Hereditary Elliptocytosis (HE) and the molecular basis of the defect is invariably the duplication of TTG at codon 154 of the alpha spectrin gene. The present study reports the identification of five Calabrian families with SP alpha I/65 HE and their distribution in the population.
authors.affiliation: Centro Studi della Microcitemia, Cosenza, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Qualtieri
authors.forename: M G
authors.initials: MG
authors.lastname: Bisconte
authors.forename: A
authors.initials: A
authors.lastname: Pasqua
authors.forename: M
authors.initials: M
authors.lastname: Bria
authors.forename: C
authors.initials: C
authors.lastname: Brancati
mesh_terms: D000328:Adult; D000368:Aged; D001483:Base Sequence; D004252:DNA Mutational Analysis; D017931:DNA Primers; D004591:Electrophoresis, Polyacrylamide Gel; D004612:Elliptocytosis, Hereditary / Q000208:ethnology / Q000235:genetics*; D005260:Female; D006801:Humans; D015151:Immunoblotting; D007558:Italy; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D010375:Pedigree; D013049:Spectrin / Q000235:genetics*
chemical_list: D017931:DNA Primers; D013049:Spectrin