Article
Spectrum of beta-thalassaemia mutations in transfusion dependent thalassaemia patients: practical implications in prenatal diagnosis.
The Medical journal of Malaysia - 1 Sept 1993
George E, George R, Ariffin W A, Mokhtar A B, Azman Z A, Sivagengei K
Abstract excerpt
The study concerned the identification of the beta-thalassaemia mutations that were present in 24 patients with beta-thalassaemia major who were transfusion dependent. The application of a modified polymerase chain reaction, the amplification refractory system (ARMS) was found to be an effective...
Topics
- Base Sequence
- Blood Transfusion
- Child
- Child, Preschool
- Humans
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- Prenatal Diagnosis
- beta-Thalassemia