Article
Frequency of alpha-globin gene triplications and their interaction with beta-thalassemia mutations.
Hemoglobin - 1 Jan 2009
Giordano Piero C, Bakker-Verwij Margaretha, Harteveld Cornelis L
Abstract excerpt
Our protocol for specialized diagnostics includes routine alpha-globin gene analysis for all blood samples referred to our diagnostic laboratory. alpha-Globin gene triplication is found to be present in more than 1% of samples tested. Since all cases with single alpha-gene triplications are associated with normal hematological parameters, we assume that preselection does not bias our observation and that...
Topics
- Cohort Studies
- Female
- Gene Amplification
- Hematologic Tests
- Humans
- Male
- Phenotype
- alpha-Globins
- beta-Thalassemia
