# PubMed- Detection of germline rearrangements in patients with Î±- and Î²-thalassemia using high resolution array CGH.



## VSsupport (Feb 12, 2008)

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*Detection of germline rearrangements in patients with Î±- and Î²-thalassemia using high resolution array CGH.*

Blood Cells Mol Dis. 2013 Mar 12;

Authors: Blattner A, Brunner-Agten S, Ludin K, Hergersberg M, Herklotz R, Huber AR, Röthlisberger B

Abstract
Approximately 80% of Î±-thalassemia mutations are deletions in the Î±-globin cluster on chromosome 16 and about 10% of Î²-thalassemia mutations are deletions in the Î²-globin gene cluster on chromosome 11. Larger deletions involving the Î²-globin gene cluster lead to (Î´Î²)-, (Î³Î´Î²)-, (ÎµÎ³Î´Î²)-thalassemia, or hereditary persistence of fetal hemoglobin (HPFH). Array comparative genomic hybridization (CGH) was applied to screen for deletions in the Î±- and Î²-globin gene clusters not detected by routine gap-PCR. In total, in 13 patients with hypochromia and inclusion bodies (IBs) the Î±-globin gene cluster was analyzed and in 13 patients with increased fetal hemoglobin levels with or without hypochromia the Î²-globin gene cluster was examined. All samples were subsequently investigated by multiplex ligation-dependent probe amplification (MLPA). In 9 out of 13 patients deletions of the Î±-globin gene cluster were identified; 5 of these deletions remove the entire Î±-globin cluster and extend to the telomere. Additional sequencing of the remaining 4 patients revealed polyadenylation mutation in 1 of them. 7 deletions were identified in the Î²-globin gene cluster in 13 patients. Additional sequencing of the remaining 6 patients revealed mutations in one of the Î³-globin gene promoters in 3 of them and a KLF1-mutation in 1 of them. Array CGH is a reliable method to screen for deletions in thalassemia and hemoglobinopathy. The method offers the advantage of a high resolution with the possibility to characterize breakpoints on sequence level.

PMID: 23491071 [PubMed - as supplied by publisher]

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