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 ($\delta$$\beta$)0-Thalassemia Deletion in Mexican Patients},
  author={Luis F Guzm{\'a}n and Francisco Javier 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 Luz Ch{\'a}vez-Velasco and C Bertha Ibarra},
  journal={Hemoglobin},
  year={2011},
  volume={35},
  pages={80 - 83}
}
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… 
Hb Grand Junction (HBB: c.348_349delinsG; p.His117IlefsX42): A New Hyperunstable Hemoglobin Variant
TLDR
Two Hispanic adolescents with a new unstable Hb variant, resulting from a frameshift mutation at codons 115/116 of the β-globin gene, are described, leading to a decreased imbalance between α and β chain formation, and subsequently a milder phenotype than that seen in other hyperunstable Hb variants.

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