Document Detail

A late onset sickle cell disease reveals a mosaic segmental uniparental isodisomy of chromosome 11p15.
MedLine Citation:
PMID:  25159120     Owner:  NLM     Status:  Publisher    
We report, in a 78-year old man constitutionally heterozygous for the sickle cell trait, a late onset sickle cell disease (SCD) caused by a mosaic segmental uniparental isodisomy of chromosome 11p15. The mosaic loss of heterozygosity (LOH) of the HBB gene was suggested in front of an unusually weak β(A) peak at Sanger direct sequencing and a semi-quantitative FRET Light Cycler method which showed a low expression of the β(A) allele compared to the β(S) allele. A SNP array analysis then revealed a 45.9Mb LOH on almost the whole short arm of chromosome 11 without any copy loss number and with an estimated level of mosaicism of 80%. Culture and genotyping of erythroblastic burst forming units confirmed the presence of AS and SS hematopoietic cells in the proportions of 2/3 and 1/3, respectively. Such a late-onset SCD had already been described but for a much younger patient (a 14-year-old boy). This discrepancy could be explained either by a much lower degree of mosaicism at birth in our proband (and thus a much more delayed clinical expression) or by inter-individual variations (modifier genes for example) that could have slowed down the positive selection of S/S clones.
Isabelle Vinatier; Xavier Martin; Jean-Marc Costa; Anne Bazin; Stéphane Giraudier; Philippe Joly
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2014-8-19
Journal Detail:
Title:  Blood cells, molecules & diseases     Volume:  -     ISSN:  1096-0961     ISO Abbreviation:  Blood Cells Mol. Dis.     Publication Date:  2014 Aug 
Date Detail:
Created Date:  2014-8-27     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9509932     Medline TA:  Blood Cells Mol Dis     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
Copyright © 2014 Elsevier Inc. All rights reserved.
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