Alpha I/65 hereditary elliptocytosis in southern Italy: evidence for an African origin.
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.
Department of Pediatrics, University of Naples, Italy.
E M
EM
del Giudice
M T
MT
Ducluzeau
N
N
Alloisio
R
R
Wilmotte
J
J
Delaunay
S
S
Perrotta
S
S
Cutillo
A
A
Iolascon
D000354:Africa, Western; D001483:Base Sequence; D002869:Chromosome Aberrations; D003062:Codon / Q000235:genetics; D004612:Elliptocytosis, Hereditary / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D015151:Immunoblotting; D007223:Infant; D007231:Infant, Newborn; D007558:Italy / Q000453:epidemiology; D008969:Molecular Sequence Data; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D012091:Repetitive Sequences, Nucleic Acid; D012802:Sicily / Q000453:epidemiology; D013049:Spectrin / Q000235:genetics*
D003062:Codon; D013049:Spectrin