Article
Beta-thalassemia major resulting from a compound heterozygosity for the beta-globin gene mutation: further evidence for multiple origin and migration of the thalassemia gene.
Human genetics - 1 May 1992
Chifu Y, Nakashima H, Hara H, Yokota E, Imamura T
Abstract excerpt
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 n...
Topics
- Adult
- Base Sequence
- Blotting, Southern
- Child
- Child, Preschool
- Female
- Globins
- Heterozygote
- Humans
- Male
- Molecular Sequence Data
- Multigene Family
- Mutation
- Oligodeoxyribonucleotides
- Polymorphism, Restriction Fragment Length
- Thalassemia