The beta-globin gene present on the deletion locus in a Dutch gamma beta-thalassaemic patient was found to be identical to the normal beta-globin gene with respect to DNA sequence and its transcription in HeLa cells. DNase I sensitivity and methylation experiments show that the affected beta-globin gene is present in an inactive configuration in vivo. This is the result of a translocation of a normally inactive locus next to the beta-globin gene on the affected chromosome, or the deletion of sequences which are normally required for the maintenance of the active state.

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Nature Publishing Group NPG (MacMillan),
Nature: international weekly journal of science
Erasmus MC: University Medical Center Rotterdam

Kioussis, D, Vanin, E, de Lange, T, Flavell, R.A, & Grosveld, F.G. (1983). β-globin gene inactivation by DNA translocation in γ β-thalassaemia. Nature: international weekly journal of science, 306, 662–666. doi:10.1038/306662a0