Article
Genetic heterogeneity of beta-thalassemia in southeast Sicily.
American journal of hematology - 1 Jan 1995
Schilirò G, Di Gregorio F, Samperi P, Mirabile E, Liang R, Cürük M A, Ye Z, Huisman T H
Abstract excerpt
In this study we have defined the spectrum of the beta-thalassemia mutations, the beta-thalassemia haplotypes, and the genotype-to-phenotype correlations in a large number of patients with different beta-thalassemia conditions. Seventeen different beta-thalassemia mutations were detected which included one chromosome each with Hb Dhonburi and Hb Lepore. Five alleles, namely, codon 39 (C-->T), IVS-I-110 (G-->A),...
Topics
- Fetal Hemoglobin
- Genetic Linkage
- Haplotypes
- Hemoglobin, Sickle
- Hemoglobins, Abnormal
- Heterozygote
- Humans
- Mutation
- Phenotype
- Sicily
- beta-Thalassemia