A novel 506 kb deletion causing epsilon gamma delta beta thalassemia

Helen Rooks, Barnaby Clark, Steve Best, Peter Rushton, Matthew Oakley, Onn Shaun Thein, Ann C. Cuthbert, Alison Britland, Afruj Ruf, Swee Lay Thein

    Research output: Contribution to journalArticlepeer-review

    26 Citations (Scopus)


    We describe a novel deletion causing epsilon gamma delta beta thalassemia in a Pakistani family. The Pakistani deletion is 506 kb in length, and the second largest epsilon gamma delta beta thalassemia deletion reported to date. It removes the entire beta globin gene (HBB) cluster, extending from 431 kb upstream to 75 kb downstream of the E globin gene (HBE). The breakpoint junction occurred within a 160 bp palindrome embedded in LINE/LTR repeats, and contained a short (9 bp) region of direct homology which may have contributed to the recombination event. Characterization of the deletion breakpoints has been particularly challenging due to the complexity of DNA deletion, insertion and inversion, involving a multitude of methodologies, mirroring the changing DNA analysis technologies. (C) 2012 Elsevier Inc. All rights reserved.

    Original languageEnglish
    Pages (from-to)121-127
    Number of pages7
    JournalBlood Cells Molecules and Diseases
    Issue number3-4
    Publication statusPublished - 15 Oct 2012


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