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Blood, 15 August 2001, Vol. 98, No. 4, pp. 1261-1263

BRIEF REPORT

A novel delta beta fusion gene expresses hemoglobin A (HbA) not Hb Lepore: Senegalese delta 0beta + thalassemia

Samia Zertal-Zidani, Rolande Ducrocq, Catherine Weil-Olivier, Jacques Elion, and Rajagopal Krishnamoorthy

From INSERM U 458, Biochimie Génétique, Hôpital Robert Debre, Paris, France, and CHU Louis Mourier-Service de pédiatrie générale, Renouilliers, Colombes, France.

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 0beta + 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.

© 2001 by The American Society of Hematology.
 

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