The association of alfa-gene quadruplication and heterozygous beta-thalassemia has been recognized in individuals and families whose thalassemia intermedia has previously been attributed to the interaction of heterozygous beta-thalassemia and an unknown melecular defect unlinked to the beta-cluster. The MLPA method was applied and revealed an extended duplication on the alfa-cluster in 19 of them.
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Origa et al. (2013) studied this question.
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