1. A novel δβ fusion gene expresses hemoglobin A (HbA) not Hb Lepore: Senegalese δ0β+thalassemia
- Author
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Rajagopal Krishnamoorthy, Rolande Ducrocq, Samia Zertal-Zidani, Jacques Elion, and Catherine Weil-Olivier
- Subjects
Genetics ,Thalassemia ,Immunology ,Beta thalassemia ,Context (language use) ,Promoter ,Cell Biology ,Hematology ,Biology ,medicine.disease ,Biochemistry ,Molecular biology ,Fusion gene ,Hemoglobin A ,hemic and lymphatic diseases ,medicine ,Globin ,Gene - Abstract
This study identified and characterized a novel delta beta fusion gene in which the delta-globin gene promoter is linked to intact beta-globin coding sequences in a Senegalese family. It results from a 7.4-kb deletion that removes the delta-globin coding sequences, the delta beta intergenic region as well as the beta-globin gene promoter and causes delta(0)beta(+) thalassemia with hemoglobin A expressed at the 11% to 15% range. The phenotype of this naturally occurring delta beta hybrid gene not only clarifies, in an in vivo context, the respective strength of delta- and beta-globin gene promoters, but also emphasizes the importance of beta-globin intragenic sequences in the expression of beta-globin chains. (Blood. 2001;98:1261-1263)
- Published
- 2001
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