An initiation codon mutation as a cause of beta-thalassemia in a Belgian family.
(1993) Hemoglobin : international journal for hemoglobin research — Vol. 17, n° 1, p. 19-30 (1993)
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- Abstract
- Nine asymptomatic members of a family of Belgian origin, spanning three generations, present typical features of heterozygous beta-thalassemia. Since no mutation was detected with a large panel of oligonucleotide probes, the thalassemia gene was investigated by direct sequencing of DNA segments amplified by the polymerase chain reaction. A T-->C transition was detected in the translation initiation codon (ATG). The mutation, which abolishes an Nco I restriction site, was further confirmed by enzymatic digestion as well as by dot-blot hybridization of the amplified products with allele-specific oligonucleotide probes. It produced a beta zero-thalassemia phenotype characterized by marked microcytosis and hypochromia, as well as by an in vitro beta/alpha chain synthesis ratio close to O.5. Search for haplotype linkage showed the mutation to be associated with haplotype IX [- + - + + + +].
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Wildmann, C., Larondelle, Y., Vaerman, J.-P., Eeckels, R., Martiat, P., & Philippe, M. (1993). An initiation codon mutation as a cause of beta-thalassemia in a Belgian family. Hemoglobin : international journal for hemoglobin research, 17(1), 19-30. https://doi.org/10.3109/03630269308998882 (Original work published 1993)