An ~300 bp deletion involving part of the 5' β-globin gene region is observed in members of a Turkish family with β-thalassemia

J. C. Diaz-Chico, K. G. Yang, Abdullah Kutlar, A. L. Reese, M. Aksoy, T. H.J. Huisman

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Abstract

Detailed gene mapping analyses of genomic DNA from two Turkish subjects with a β-thalassemia trait demonstrated an ~300 bp deletion, which is located between the Rsa I restriction site 128 bp 5' to the Cap site and the Acc I restriction site 284 bp 3' to the same Cap site; it includes the 5' β promoter region, the first exon, and (part of) the IVS-I. Heterozygotes for this and two other β-thalassemia types, which are also caused by deletions involving 5' β promoter sequences, appear to have higher hemoglobin (Hb) A2 levels, perhaps because the loss of this promoter results in an increased transcription of the δ globin gene, as δ and β promoters may be influenced by the same enhancing sequences 3' to the β globin gene.

Original languageEnglish (US)
Pages (from-to)583-586
Number of pages4
JournalBlood
Volume70
Issue number2
Publication statusPublished - Jan 1 1987

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ASJC Scopus subject areas

  • Biochemistry
  • Immunology
  • Hematology
  • Cell Biology

Cite this

Diaz-Chico, J. C., Yang, K. G., Kutlar, A., Reese, A. L., Aksoy, M., & Huisman, T. H. J. (1987). An ~300 bp deletion involving part of the 5' β-globin gene region is observed in members of a Turkish family with β-thalassemia. Blood, 70(2), 583-586.