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We investigated whether mutations in the KLF1 gene are associated with increased Hb F levels in ethnically diverse patients referred to our laboratory for hemoglobinopathy investigation. Functionally effective KLF1 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. KLF1 mutations were not identified in a matched cohort of 121 samples with normal Hb F levels (<1.0%). A further novel KLF1 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 KLF1 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 in vivo evidence that a single altered KLF1 allele is sufficient to increase Hb F levels.

Original publication




Journal article



Publication Date





340 - 343


Adolescent, Adult, Aged, Aged, 80 and over, Anemia, Sickle Cell, Child, Child, Preschool, Fetal Hemoglobin, Gene Order, Genetic Association Studies, Genotype, Hemoglobinopathies, Humans, Infant, Kruppel-Like Transcription Factors, Middle Aged, Mutation, Polymorphism, Single Nucleotide, Young Adult