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Hemoglobin
international journal for hemoglobin research
Volume 33, 2009 - Issue 2
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Original Article

Frequency of α-Globin Gene Triplications and Their Interaction with β-Thalassemia Mutations

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Pages 124-131 | Received 10 Nov 2008, Accepted 05 Dec 2008, Published online: 07 Jul 2009
 

Abstract

Our protocol for specialized diagnostics includes routine α-globin gene analysis for all blood samples referred to our diagnostic laboratory. α-Globin gene triplication is found to be present in more than 1% of samples tested. Since all cases with single α-gene triplications are associated with normal hematological parameters, we assume that preselection does not bias our observation and that α-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 β-thalassemia (β-thal) carriers with those of carriers with an associated α-gene triplication. In all cases, a single additional α gene had a very limited effect on the β-thal minor phenotypes.

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