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• W2164139540 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." @default.
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• W2164139540 date "2012-07-16" @default.
• W2164139540 modified "2023-10-16" @default.
• W2164139540 title "Estimation of the difference in HbF expression due to loss of the 5' -globin BCL11A binding region" @default.
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• W2164139540 doi "https://doi.org/10.3324/haematol.2012.061994" @default.
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