Identification of five rare mutations including a novel frameshift mutation causing beta zero-thalassemia in Thai patients with beta zero-thalassemia/hemoglobin E disease.

Abstract excerpt

6 out of 14 uncharacterized beta-thalassemia alleles from 187 Thai beta-thalassemia/HbE patients were identified by direct sequencing of DNA amplified by polymerase chain reaction. A novel mutation occurring from an insertion of adenosine in codon 95, which results in a shift of the reading frame with terminator at the new codon 101, was detected in one patient. In addition, two frameshift mutations not...

Topics

• Adult
• Alleles
• Base Sequence
• Female
• Frameshift Mutation
• Globins
• Hemoglobin E
• Heterozygote
• Humans
• Infant
• Male
• Molecular Sequence Data