Article
Concomitant inheritance of homozygous alpha-thalassemia-2 with homozygous IVS-I-5 G-C beta gene mutation does not influence the severity of the thalassemic phenotype.
Nouvelle revue francaise d'hematologie - 1 Jan 1991
Beris P H, Darbellay R, Beck D, Oner R
Abstract excerpt
An Asian Indian child presented the severe transfusion dependent form of beta-thalassemia major. Sequencing data and gene mapping analysis revealed the concomitant presence of homozygous alpha-thal-2 type 3.7 kb deletion with homozygous beta+ thal IVS-1-5 G-C mutation. Further studies at the DNA level demonstrated that he was XmnI negative at the -158 G gamma site and had the haplotype + ----- +. These results...
Topics
- Base Sequence
- Consensus Sequence
- DNA Mutational Analysis
- Fetal Hemoglobin
- Globins
- Homozygote
- Humans
- Infant
- Male
- Molecular Sequence Data
- Phenotype