Whole genome sequence-based haplotypes reveal a single origin of the 1393 bp HBB deletion

Germline mutations of HBB gene that reduces its expression give rise to b thalassemia, and nearly 300 of these have been described. Deletions causing b-thalassemia are very rare. We have identified three individuals with identical HBB deletions of 1,393 bp associated with relatively high levels of hemoglobin A2 and hemoglobin. Using information from whole genome sequencing data we confirmed the individuals to be unrelated. We derived 123 distinct b-haplotypes and show that the haplotype carrying the 1,393 bp HBB deletion was the same in all three individuals that suggests that the deletion is likely to be from the same ancestral origin.  (By Dr Swee Lay Thein, https://jmg.bmj.com/content/early/2020/01/29/jmedgenet-2019-106698 )

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