✦ LIBER ✦
β-Thalassemia major resulting from a compound heterozygosity for the β-globin gene mutation: further evidence for multiple origin and migration of the thalassemia gene
✍ Scribed by Yutaka Chifti; Hitoshi Nakashima; Hisao Hara; Eisuke Yokota; Takashi Imamura
- Publisher
- Springer
- Year
- 1992
- Tongue
- English
- Weight
- 494 KB
- Volume
- 89
- Category
- Article
- ISSN
- 0340-6717
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✦ Synopsis
We describe in a Japanese family beta zero-thalassemia resulting from a compound heterozygosity for a beta-globin gene mutation. One mutation is a C-to-T transition at IVS-2 nucleotide position 654 on the background of Mediterranean haplotype IX. Another mutation is a G-to-A transition at IVS-2 nucleotide position 1, associated with a novel haplotype XI. The occurrence of these mutations on various chromosomal backgrounds provides strong evidence for an interplay of gene migration, interallelic gene conversion, and multiple origins of the same mutation.