Alpha(I/65) Hereditary elliptocytosis (HE) is due to the duplication of TTG codon 154(1) (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.

Alpha-i65 Hereditary Elliptocytosis In Southern Italy - Evidence For An African Origin / E. M., Delgiudice; M. T., Ducluzeau; N., Alloisio; R., Wilmotte; J., Delaunay; S., Perrotta; S., Cutillo; Iolascon, Achille. - In: HUMAN GENETICS. - ISSN 0340-6717. - ELETTRONICO. - 89:5(1992), pp. 553-556.

Alpha-i65 Hereditary Elliptocytosis In Southern Italy - Evidence For An African Origin

IOLASCON, ACHILLE
1992

Abstract

Alpha(I/65) Hereditary elliptocytosis (HE) is due to the duplication of TTG codon 154(1) (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.
1992
Alpha-i65 Hereditary Elliptocytosis In Southern Italy - Evidence For An African Origin / E. M., Delgiudice; M. T., Ducluzeau; N., Alloisio; R., Wilmotte; J., Delaunay; S., Perrotta; S., Cutillo; Iolascon, Achille. - In: HUMAN GENETICS. - ISSN 0340-6717. - ELETTRONICO. - 89:5(1992), pp. 553-556.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11588/463817
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