John Libbey Eurotext



Regulation mechanisms controlling fetal hemoglobin expression Volume 16, issue 3, mai-juin 2010


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Institut Cochin, Université Paris-Descartes, CNRS (UMR 8104), et Inserm U1016, Paris

Expression of fetal hemoglobin (HbF) among adult individuals is highly variable and has been studied by many approaches. Indeed such a variability can be considered as a general model, it is also of major value for modifyng the severity of hemoglobinopathies. Modulating factors demonstrated in cis to the β-globin gene were not sufficient to explain this variability. More recently several quantitative trait loci (QTL) were identified in trans to the gene. One of those QTL, BCL11A on chromosome 2, is itself under control of ontogenic development ; it might explain the normal HbF→HbA switch and its pathophysiological deregulation.