Article
Molecular characterization of beta-thalassaemia in 174 Greek patients with thalassaemia major.
British journal of haematology - 1 Mar 1990
Kattamis C, Hu H, Cheng G, Reese A L, Gonzalez-Redondo J M, Kutlar A, Kutlar F, Huisman T H
Abstract excerpt
The mutations producing beta-thalassaemia in 174 Greek patients with thalassaemia major were investigated by dot-blot hybridization of oligonucleotide probes to genomic DNA amplified by the polymerase chain reaction procedure, by direct sequencing of amplified DNA, and by gene mapping. beta-thalassaemia in Greeks was found to be very heterogeneous at the molecular level as 17 different mutations were observed:...
Topics
- Adolescent
- Adult
- Child
- Child, Preschool
- Greece
- Humans
- Mutation
- Oligonucleotide Probes
- Prenatal Diagnosis
- Thalassemia