The molecular defect was defined in 38 δβ-thalassemic chromosomes from 30 unrelated heterozygous and 4 homozygous patients of Greek origin. Restriction fragment β-gene cluster haplotypes were studies in 23 δβ-thalassemic chromosomes. The molecular lesion was identical in all studied cases and corresponds to the ‘Sicilian’ type of δβ-thalassemia. Restriction haplotypes analysis has shown that, with one exception only, all Greek δβ-thalassemic chromosomes bear the polymorphic sites which characterize haplotypes I or VII, the former being probable by indirect evidence. The striking similarities of the molecular lesion and the underlying haplotypes are consistent with two theories: (1) The deletion occurred once on a chromosome and spread all over Greece and the Mediterranean area thereafter; (2) the 5´ subhaplotype + – – – – favors the deletional event in the δ-β gene area.

Keywords:
PCR, haplotypes, Southern blot, δβ-Thalassemia
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© 1994 S. Karger AG, Basel
1994
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