Cookies on this website
We use cookies to ensure that we give you the best experience on our website. If you click 'Continue' we'll assume that you are happy to receive all cookies and you won't see this message again. Click 'Find out more' for information on how to change your cookie settings.

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

DOI

10.3324/haematol.2011.055442

Type

Journal article

Journal

Haematologica

Publication Date

03/2012

Volume

97

Pages

340 - 343

Keywords

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