A novel delta beta fusion gene expresses hemoglobin A (HbA) not Hb Lepore: Senegalese delta(0)beta(+) thalassemia.
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)
Zertal-Zidani
S
S
INSERM U 458, Biochimie Génétique, Hôpital Robert Debre, Paris, France.
Ducrocq
R
R
Weil-Olivier
C
C
Elion
J
J
Krishnamoorthy
R
R
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D005192:Family Health; D005260:Female; D005914:Globins / Q000235:genetics; D006441:Hemoglobin A / Q000235:genetics*; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009679:Nuclear Family; D010375:Pedigree; D011401:Promoter Regions, Genetic / Q000235:genetics; D012675:Senegal; D017384:Sequence Deletion / Q000235:genetics*; D017086:beta-Thalassemia / Q000235:genetics
D006455:Hemoglobins, Abnormal; D005914:Globins; D006441:Hemoglobin A; C037659:hemoglobin Lepore