Alpha I/65 hereditary elliptocytosis in southern Italy: evidence for an African origin

Hum Genet. 1992 Jul;89(5):553-6. doi: 10.1007/BF00219183.

Abstract

alpha I/65 Hereditary elliptocytosis (HE) is due to the duplication of TTG codon 154 (leucine) of alpha-spectrin and is associated with a constant haplotype. It was encountered exclusively in African and American Blacks, and in North Africans. We assumed that it diffused from the Benin-Togo area to Northern Africa. We now report two South Italian families with alpha I/65 HE. The phenotype fully conformed to previous descriptions. The mode of transmission was dominant; however, the manifestations were more pronounced when the common, low expression level alpha V/41 allele occurred in trans to the alpha I/65 allele, also conforming to previous records. The mutation underlying alpha I/65 HE turned out to be, again, the duplication of TTG codon 154 and the associated haplotype was the same as that encountered previously (+-+; XbaI, PvuII, MspI). Thus, the alpha I/65 allele found in Italy must have been introduced from North Africa across the Sicilian channel and would ultimately have originated from the Benin-Togo area. It would witness the same migratory stream as that followed by the Benin type haemoglobin S allele, which is also present in Southern Italy.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Africa, Western
  • Base Sequence
  • Chromosome Aberrations*
  • Codon / genetics
  • Elliptocytosis, Hereditary / epidemiology
  • Elliptocytosis, Hereditary / genetics*
  • Female
  • Genes, Dominant
  • Humans
  • Immunoblotting
  • Infant
  • Infant, Newborn
  • Italy / epidemiology
  • Molecular Sequence Data
  • Pedigree
  • Polymorphism, Restriction Fragment Length
  • Repetitive Sequences, Nucleic Acid
  • Sicily / epidemiology
  • Spectrin / genetics*

Substances

  • Codon
  • Spectrin