These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: β+-Thalassemia trait due to a novel mutation in the β-globin gene promoter: -26 (A>C) [HBB c.-76A>C].
    Author: Waye JS, Nakamura-Garrett LM, Eng B, Kanavakis E, Traeger-Synodinos J.
    Journal: Hemoglobin; 2011; 35(1):84-6. PubMed ID: 21250885.
    Abstract:
    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.
    [Abstract] [Full Text] [Related] [New Search]