Frequency of alpha-globin gene triplications and their interaction with beta-thalassemia mutations

Hemoglobin. 2009;33(2):124-31. doi: 10.1080/03630260902827684.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cohort Studies
  • Female
  • Gene Amplification*
  • Hematologic Tests
  • Humans
  • Male
  • Phenotype
  • alpha-Globins / genetics*
  • beta-Thalassemia / ethnology
  • beta-Thalassemia / genetics*

Substances

  • alpha-Globins