@article{Alice E. Gallienne_Hélène M.P. Dréau_Anna Schuh_John M. Old_Shirley Henderson_2012, place={Pavia, Italy}, title={Ten novel mutations in the erythroid transcription factor KLF1 gene associated with increased fetal hemoglobin levels in adults}, volume={97}, url={https://haematologica.org/article/view/6234}, DOI={10.3324/haematol.2011.055442}, abstractNote={We investigated whether mutations in the <em>KLF1</em> gene are associated with increased Hb F levels in ethnically diverse patients referred to our laboratory for hemoglobinopathy investigation. Functionally effective <em>KLF1</em> mutations were identified in 11 out of 131 adult samples with an elevated Hb F level (1.5–25.0%). Eleven different mutations were identified, 9 of which were previously unreported. <em>KLF1</em> mutations were not identified in a matched cohort of 121 samples with normal Hb F levels (<1.0%). A further novel <em>KLF1</em> mutation was also found in a sickle cell disease patient with a Hb F level of 20.3% who had a particularly mild phenotype. Our results indicate <em>KLF1</em> mutations could make a significant contribution to Hb F variance in malarial regions where hemogobinopathies are common. All the mutations identified were heterozygous providing further <em>in vivo</em> evidence that a single altered <em>KLF1</em&gt; allele is sufficient to increase Hb F levels.}, number={3}, journal={Haematologica}, author={Alice E. Gallienne and Hélène M.P. Dréau and Anna Schuh and John M. Old and Shirley Henderson}, year={2012}, month={Mar.}, pages={340-343} }