Article
The -158 (C-->T) promoter mutation is responsible for the increased transcription of the 3' gamma gene in the Atlanta type of hereditary persistence of fetal hemoglobin.
Blood - 1 Jun 1994
Efremov D G, Dimovski A J, Huisman T H
Abstract excerpt
The Atlanta type of hereditary persistence of fetal hemoglobin (HPFH) is characterized by a mild elevation of Hb F (2% to 5% in heterozygotes), almost exclusively of the G gamma type (more than 90%). Gene-mapping analysis has identified this condition as a -G gamma-G gamma- arrangement with the -...
Topics
- Adolescent
- Adult
- Base Sequence
- Child
- Child, Preschool
- Female
- Fetal Hemoglobin
- Globins
- Hemoglobinopathies
- Humans
- Infant
- Male
- Molecular Sequence Data
- Mutation
- Promoter Regions, Genetic
- Transcription, Genetic