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; H Lehmann

doi: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

Published October 1, 1985 - More info

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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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