Article
Heterozygous beta-thalassemia: relationship between the hematological phenotype and the type of beta-thalassemia mutation.
American journal of hematology - 1 Jan 1992
Rosatelli C, Leoni G B, Tuveri T, Scalas M T, Mosca A, Galanello R, Gasperini D, Cao A
Abstract excerpt
In this study we have correlated the severity of the hematological features to the type of the beta-thalassemia mutation [codon 39 (C----T), IVS-I nt 110 (G----A), IVS-I nt 1 (G----A), IVS-I nt 6 (T----C), IVS-II nt 745 (C----G), -87 (C----G) and beta 6 (-1 bp)], in a group of beta-thalassemia he...
Topics
- Adult
- Alleles
- DNA
- Gene Amplification
- Hemoglobin A2
- Heterozygote
- Humans
- Immunoblotting
- Male
- Middle Aged
- Mutation
- Oligonucleotide Probes
- Phenotype
