The entire β-globin gene cluster is deleted in a form of γδβ thalassemia

E. R. Fearon, H. H. Kazazian, P. G. Waber, J. I. Lee, S. E. Antonarakis, S. H. Orkin, E. F. Vanin, P. S. Henthorn, F. G. Grosveld, A. F. Scott, G. R. Buchanan

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Abstract

We have used restriction endonuclease mapping to study a deletion involving the β-globin gene cluster in a Mexican-American family with γδβ-thalassemia. Analysis of DNA polymorphisms demonstrated deletion of the β-globin gene from the affected chromosome. Using a DNA fragment that maps greater than 40 kilobases (kb) 5' to the ε-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 β-globin cluster has shown that the deletion extends more than 17 kb 3' to the β-gene, but terminates before the 3' endpoint of the Ghanian HPFH deletion. Hence, this γδβ-thalassemia deletion eliminates over 105 kb of DNA and is the first report of a deletion of the entire β-globin gene cluster.

Original languageEnglish (US)
Pages (from-to)1269-1274
Number of pages6
JournalBlood
Volume61
Issue number6
StatePublished - Jul 21 1983

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ASJC Scopus subject areas

  • Biochemistry
  • Immunology
  • Hematology
  • Cell Biology

Cite this

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. (1983). The entire β-globin gene cluster is deleted in a form of γδβ thalassemia. Blood, 61(6), 1269-1274.