Article
Reverse dot-blot detection of Thai beta-thalassaemia mutations.
British journal of haematology - 1 Aug 1995
Sutcharitchan P, Saiki R, Fucharoen S, Winichagoon P, Erlich H, Embury S H
Abstract excerpt
Pending curative therapy, newborn screening and prenatal diagnosis are essential to the management of beta thalassaemia. Diagnosis using electrophoretic methods is difficult in the presence of composite phenotypes and high Hb F levels. Direct DNA detection of mutant alleles circumvents both problems, but the enormous diversity of beta-thalassaemia mutations poses challenges for this approach. Among PCR-based...
Topics
- Base Sequence
- Globins
- Humans
- Immunoblotting
- Molecular Sequence Data
- Mutation
- Polymerase Chain Reaction
- beta-Thalassemia