Article
Molecular basis of alpha-thalassemia in Sicily.
Human genetics - 1 Mar 1997
Fichera M, Spalletta A, Fiorenza F, Lombardo T, Schilirò G, Tamouza R, Lapouméroulie C, Labie D, Ragusa A
Abstract excerpt
To evaluate the allelic frequency and genetic diversity of alpha-thalassemia defects in Sicily, both epidemiological and patient-oriented studies were carried out. For the epidemiological study, phenotypic data were collected on more than 1000 Sicilian individuals. Among them, 427 were explored at the molecular level for nine alpha-thalassemic variants known to be common in the Mediterranean region. Our data...
Topics
- Adolescent
- Base Sequence
- Child
- Child, Preschool
- DNA
- DNA Mutational Analysis
- Gene Deletion
- Gene Frequency
- Genotype
- Humans
- Molecular Sequence Data
- Mutation
- Phenotype
- Sicily
- alpha-Thalassemia