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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

The entire beta-globin gene cluster is deleted in a form of gamma delta beta-thalassemia.

We have used restriction endonuclease mapping to study a deletion involving the beta-globin gene cluster in a Mexican-American family with gamma delta beta-thalassemia. Analysis of DNA polymorphisms demonstrated deletion of the beta-globin gene from the affected chromosome. Using a DNA fragment that maps greater than 40 kilobases (kb) 5' to the epsilon-gene as a probe, reduced amounts of normal fragments were found in the DNA of affected family members. Similar analysis using radiolabeled DNA fragments located 3' to the beta-globin cluster has shown that the deletion extends more than 17 kb 3' to the beta-gene, but terminates before the 3' endpoint of the Ghanian HPFH deletion. Hence, this gamma delta beta-thalassemia deletion eliminates over 105 kb of DNA and is the first report of a deletion of the entire beta-globin gene cluster.[1]


  1. The entire beta-globin gene cluster is deleted in a form of gamma delta beta-thalassemia. Fearon, E.R., Kazazian, H.H., Waber, P.G., Lee, J.I., Antonarakis, S.E., Orkin, S.H., Vanin, E.F., Henthorn, P.S., Grosveld, F.G., Scott, A.F., Buchanan, G.R. Blood (1983) [Pubmed]
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