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

doi:10.1016/j.bcmd.2012.05.010

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 journal › Article › peer-review

26 Citations (Scopus)

Abstract

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 language	English
Pages (from-to)	121-127
Number of pages	7
Journal	Blood Cells Molecules and Diseases
Volume	49
Issue number	3-4
DOIs	https://doi.org/10.1016/j.bcmd.2012.05.010
Publication status	Published - 15 Oct 2012

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title = "A novel 506 kb deletion causing epsilon gamma delta beta thalassemia",

abstract = "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.",

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T1 - A novel 506 kb deletion causing epsilon gamma delta beta thalassemia

AU - Rooks, Helen

AU - Clark, Barnaby

AU - Best, Steve

AU - Rushton, Peter

AU - Oakley, Matthew

AU - Thein, Onn Shaun

AU - Cuthbert, Ann C.

AU - Britland, Alison

AU - Ruf, Afruj

AU - Thein, Swee Lay

PY - 2012/10/15

Y1 - 2012/10/15

N2 - 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.

AB - 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.

U2 - 10.1016/j.bcmd.2012.05.010

DO - 10.1016/j.bcmd.2012.05.010

M3 - Article

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JO - Blood Cells Molecules and Diseases

JF - Blood Cells Molecules and Diseases

IS - 3-4

ER -

A novel 506 kb deletion causing epsilon gamma delta beta thalassemia

Abstract

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