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Does the Novel KLF1 Gene Mutation Lead to a Delay in Fetal Hemoglobin Switch?
Author(s) -
Hariharan Priya,
Gorivale Manju,
Colah Roshan,
Ghosh Kanjaksha,
Nadkarni Anita
Publication year - 2017
Publication title -
annals of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 77
eISSN - 1469-1809
pISSN - 0003-4800
DOI - 10.1111/ahg.12191
Subject(s) - fetal hemoglobin , hemoglobinopathy , genetics , gene , biology , thalassemia , heterozygote advantage , mutation , fetus , medicine , allele , hemolytic anemia , immunology , pregnancy
Summary 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 β‐thalassemia trait (mother: HbA 2 4.1%, HbF 8.6%; father: HbA 2 5.5%, HbF 0.6%) codon 15 G→A heterozygous, and the child was β‐thalassemia homozygous. Because the mother showed a high HbF level, the genetic determinants for raised HbF were screened. We detected a novel KLF1 gene variant in the mother and the child in the heterozygous state. The co‐inheritance of this novel KLF1 v ariant might have increased the HbF levels in the mother and may have ameliorated the clinical manifestations of the 6‐year‐old untransfused β‐thalassemia homozygous child. Identification of KLF1 gene variants may act as a novel target for increasing HbF levels in patients with β‐hemoglobinopathies.