Frequency of alpha-globin gene triplications and their interaction with beta-thalassemia mutations.
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 alpha-globin gene triplications should be expected at the same frequency in the unselected Dutch multiethnic population as well. We have compared the average hematological parameters of beta-thalassemia (beta-thal) carriers with those of carriers with an associated alpha-gene triplication. In all cases, a single additional alpha gene had a very limited effect on the beta-thal minor phenotypes.
Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands. p.c.giordano@lumc.nl
Piero C
PC
Giordano
Margaretha
M
Bakker-Verwij
Cornelis L
CL
Harteveld
D015331:Cohort Studies; D005260:Female; D005784:Gene Amplification; D006403:Hematologic Tests; D006801:Humans; D008297:Male; D010641:Phenotype; D055542:alpha-Globins / Q000235:genetics*; D017086:beta-Thalassemia / Q000208:ethnology / Q000235:genetics*
D055542:alpha-Globins