• DOI:10.3109/03630269.2010.544610
Corpus ID: 38410023

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

@article{Guzmn2011CharacterizationOT,
  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},
  journal={Hemoglobin},
  year={2011},
  volume={35},
  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

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