αI/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...

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Veröffentlicht in:Human genetics 1992-07, Vol.89 (5), p.553-556
Hauptverfasser: MIRAGLIA DEL GIUDICE, E, DUCLUZEAU, M. T, ALLOISIO, N, WILMOTTE, R, DELAUNAY, J, PERROTTA, S, CUTILLO, S, IOLASCON, A
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Sprache:eng
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Zusammenfassung: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.
ISSN:0340-6717
1432-1203
DOI:10.1007/BF00219183