β+-Thalassemia trait due to a novel mutation in the β-globin gene promoter: -26 (A>C) [HBB c.-76A>C].
We report the case of a woman with β(+)-thalassemia (β(+)-thal) trait, in which there were two sequence variants within the β-globin gene promoter: -54 (G>A) [HBB c.-104G>A] and -26 (A>C) [HBB c.-76A>C]. Data from other patients indicate that the -54 substitution is a non pathogenic sequence variant. Therefore, the β-thal phenotype is most likely due to the -26 mutation that is adjacent to the conserved ATAA box.
Hamilton Regional Laboratory Medicine Program, Hamilton Health Sciences, Hamilton, Ontario, Canada. waye@hhsc.ca
John S
JS
Waye
Lisa M
LM
Nakamura-Garrett
Barry
B
Eng
Emmanuel
E
Kanavakis
Joanne
J
Traeger-Synodinos
D024506:5' Flanking Region; D000328:Adult; D001483:Base Sequence; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D055544:beta-Globins / Q000096:biosynthesis / Q000235:genetics*; D017086:beta-Thalassemia / Q000235:genetics*
D055544:beta-Globins