Article
Molecular analysis of beta-thalassaemia patients in a high incidence area of southern Italy.
Clinical and laboratory haematology - 1 Dec 2001
Rigoli L, Meo A, Miceli M R, Alessio K, Caruso R A, La Rosa M A, Salpietro D C, Ricca M, Barberi I
Abstract excerpt
The prevalence of eight mutations in 84 patients with beta-thalassaemia major and in 16 subjects with thalassaemia intermedia was investigated. All of the patients were Italian, originating from Eastern Sicily (Messina area) and some Calabrian regions. Genomic DNA was amplified by polymerase chain reaction (PCR). DNA molecular investigations were performed by allele-specific oligonucleotide (ASO) hybridization,...
Topics
- Adolescent
- Adult
- Child
- Child, Preschool
- DNA Mutational Analysis
- Gene Frequency
- Genotype
- Homozygote
- Humans
- Incidence
- Italy
- Middle Aged