Abstract:
:BCL11A was the focus of recent studies on its inhibiting effect when bound onto the β-globin cluster in the mechanism of hemoglobin switching and HbF downregulation. We examined a cohort of 10 patients displaying different HbF levels and short deletions within the γβ-δ intergenic region to find a possible correlation with the BCL11A binding site located 5' to the δ-globin gene. Precise characterization of deletions was achieved using a custom DNA-array chip and breakpoint sequencing. The α-globin cluster and major SNP associated with HbF expression were genotyped. Our results show that the loss of the BCL11A binding domain located 5' to the δ-globin gene is correlated with a strong HbF difference (mean+2.7 g/dL, ratio 2.81). This result provides evidence for the use of BCL11A level down-regulation or this domain blockage for new therapies in sickle cell disease and β-thalassemia major patients.
journal_name
Haematologicajournal_title
Haematologicaauthors
Ghedira ES,Lecerf L,Faubert E,Costes B,Moradkhani K,Bachir D,Galactéros F,Pissard Sdoi
10.3324/haematol.2012.061994subject
Has Abstractpub_date
2013-02-01 00:00:00pages
305-8issue
2eissn
0390-6078issn
1592-8721pii
haematol.2012.061994journal_volume
98pub_type
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