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  • Title: A distant gene deletion affects beta-globin gene function in an atypical gamma delta beta-thalassemia.
    Author: Curtin P, Pirastu M, Kan YW, Gobert-Jones JA, Stephens AD, Lehmann H.
    Journal: J Clin Invest; 1985 Oct; 76(4):1554-8. PubMed ID: 2997283.
    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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