Characterization of the 5' and 3' breakpoints of the Spanish (δβ)0-thalassemia deletion in Mexican patients.

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.