Article
Does the Novel KLF1 Gene Mutation Lead to a Delay in Fetal Hemoglobin Switch?
Annals of human genetics - 1 May 2017
Hariharan Priya, Gorivale Manju, Colah Roshan, Ghosh Kanjaksha, Nadkarni Anita
Abstract excerpt
The Kruppel-like factor 1 (KLF1) gene is an essential transcription factor that is required for the proper maturation of the erythroid cells. Recent studies have reported that KLF1 variations are associated with increased fetal hemoglobin (HbF) levels. Here we report a novel KLF1 gene variation codon 211 A→G (c.632 A>G) in a family who was referred for hemoglobinopathy screening. Both parents were classical...
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