A novel δβ fusion gene expresses hemoglobin A (HbA) not Hb Lepore: Senegalese δ0β+thalassemia | Zendy

Samia ZertalZidani | Zendy; Rolande Ducrocq | Zendy; Catherine Weil-Olivier | Zendy; Jacques Élion | Zendy; Rajagopal Krishnamoorthy | Zendy

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A novel δβ fusion gene expresses hemoglobin A (HbA) not Hb Lepore: Senegalese δ0β+thalassemia

Author(s) -

Samia ZertalZidani,

Rolande Ducrocq,

Catherine Weil-Olivier,

Jacques Élion,

Rajagopal Krishnamoorthy

Publication year - 2001

Publication title -

blood

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 5.515

H-Index - 465

eISSN - 1528-0020

pISSN - 0006-4971

DOI - 10.1182/blood.v98.4.1261

Subject(s) - biology , genetics , gene , globin , fusion gene , promoter , microbiology and biotechnology , coding region , thalassemia , gene expression

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)

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