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Research Article Free access | 10.1172/JCI112136

A distant gene deletion affects beta-globin gene function in an atypical gamma delta beta-thalassemia.

P Curtin, M Pirastu, Y W Kan, J A Gobert-Jones, A D Stephens, and H Lehmann

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Published October 1, 1985 - More info

Published in Volume 76, Issue 4 on October 1, 1985
J Clin Invest. 1985;76(4):1554–1558. https://doi.org/10.1172/JCI112136.
© 1985 The American Society for Clinical Investigation
Published October 1, 1985 - Version history
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Abstract

We describe an English family with an atypical gamma delta beta-thalassemia syndrome. Heterozygosity results in a beta-thalassemia phenotype with normal hemoglobin A2. However, unlike previously described cases, no history of neonatal hemolytic anemia requiring blood transfusion was obtained. Gene mapping showed a deletion that extended from the third exon of the G gamma-globin gene upstream for approximately 100 kilobases (kb). The A gamma-globin, psi beta-, delta-, and beta-globin genes in cis remained intact. The malfunction of the beta-globin gene on a chromosome in which the deletion is located 25 kb away suggests that chromatin structure and conformation are important for globin gene expression.

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