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Usage Information

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

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

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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.

Authors

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

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Usage data is cumulative from June 2025 through June 2026.

Usage JCI PMC
Text version 317 14
PDF 113 9
Figure 0 6
Scanned page 293 3
Citation downloads 122 0
Totals 845 32
Total Views 877
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Usage information is collected from two different sources: this site (JCI) and Pubmed Central (PMC). JCI information (compiled daily) shows human readership based on methods we employ to screen out robotic usage. PMC information (aggregated monthly) is also similarly screened of robotic usage.

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ISSN: 0021-9738 (print), 1558-8238 (online)

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