Characterization of the 5′ and 3′ Breakpoints of the Spanish (δβ)0-Thalassemia Deletion in Mexican Patients

  title={Characterization of the 5′ and 3′ Breakpoints of the Spanish (δβ)0-Thalassemia Deletion in Mexican Patients},
  author={Luis F. Guzm{\'a}n and F. Perea and Karina R Morales-Gonz{\'a}lez and J. Y. S{\'a}nchez-L{\'o}pez and Eduardo I de la Cruz and M. L. Ch{\'a}vez-Velasco and C. Ibarra},
  pages={80 - 83}
  • Luis F. Guzmán, F. Perea, +4 authors C. Ibarra
  • Published 2011
  • Biology, Medicine
  • Hemoglobin
  • We studied five unrelated Mexican carriers of the Spanish (δβ)0-thalassemia [(δβ)0-thal] mutation to characterize the size of the deletion, the 5′ and 3′ breakpoints and the 5′ β-globin haplotype. Sequence analysis revealed the presence of an 89,548 bp deletion. The δ- and β-globin genes, two olfactory receptor genes (OR51V1 and OR52A1) and two pseudogenes (OR52Z1P and OR51A1P) were deleted. The 5′ breakpoint was located at the same position as previously reported, and the 3′ breakpoint was… CONTINUE READING
    2 Citations

    Topics from this paper


    The deletion in a type of δ0-β0-thalassaemia begins in an inverted AluI repeat
    • 62
    • Highly Influential
    Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies
    • 353
    • PDF
    7 Increased HbF in adult life
    • 72
    Genetic structure of autochthonous populations of Meso-America: Mexico.
    • 70
    Cribado neonatal de hemoglobinopatías
    • Santiago de Compostela: Servicio Galego de Saúde, Axencia de Avalación de Texnoloxías Sanitarias de Galicia, avalia-t;
    • 2004