Abstract

The β⁰-thalassemia codon 39 nonsense mutation predominant in Sardinia is severe, and homozygotes are transfusion dependent. Two-thirds of β⁰ 39 alleles are linked to ^Aγ^T (haplotype II). Onefourth are linked to ^Aγ^I (haplotypes I and IX), as is the mild β⁺-thalassemia -87 C→G mutation (haplotype VIII). β⁺/β⁰-thalassemia VIII/II compound heterozygotes have significantly higher ^Aγ^I:^Aγ^T (23:7) than β⁰-thalassemia I/II (24:20) or IX/II (16:17) cases. This suggests that the β⁺-87 mutation is associated with elevated γ expression in cis, which may contribute to the lack of transfusion-dependence in β⁺/β⁰ cases.

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