Publication Date:
2001-08-15
Description:
This study identified and characterized a novel δβ fusion gene in which the δ-globin gene promoter is linked to intact β-globin coding sequences in a Senegalese family. It results from a 7.4-kb deletion that removes the δ-globin coding sequences, the δβ intergenic region as well as the β-globin gene promoter and causes δ0β+ thalassemia with hemoglobin A expressed at the 11% to 15% range. The phenotype of this naturally occurring δβ hybrid gene not only clarifies, in an in vivo context, the respective strength of δ- and β-globin gene promoters, but also emphasizes the importance of β-globin intragenic sequences in the expression of β-globin chains.
Print ISSN:
0006-4971
Electronic ISSN:
1528-0020
Topics:
Biology
,
Medicine
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