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- W2091683197 abstract "We investigated the molecular basis for haemoglobin H disease in 50 Sardinian patients by restriction endonuclease analysis. We found that the majority (78% of the cases) are due to gene deletion (–/ - α). Among those with a combination of deletion and nondeletion defects (–/ααth), the most prevalent nondeletion lesion (70% of the nondeletion defects) was the initiation codon mutation of the α2 gene (αNcoα), previously discovered in this population. Of the remaining patients with the (–/ααth) genotype, two showed the IVS-1 splice junction lesion and one a mutation in the α1 gene, removing the Nco I site within the 5’part of the α1 gene, which may arise from a process of gene conversion from the initiation codon mutant of the α2 gene. A single patient had the homozygous state for the initiation codon mutant of the α2 gene. Study of genotype-phenotype correlations indicates that the (αNcoα) haplotype is associated with a more severe defect in the α-globin chain output than that resulting from the (-α) haplotype. We may conclude that restriction endonuclease analysis is a powerful method for the definition of the molecular heterogeneity of haemoglobin H disease." @default.
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- W2091683197 date "1986-07-01" @default.
- W2091683197 modified "2023-09-23" @default.
- W2091683197 title "Molecular pathology of haemoglobin H disease in Sardinians" @default.
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- W2091683197 doi "https://doi.org/10.1111/j.1365-2141.1986.tb07525.x" @default.
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