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Hemoglobin
international journal for hemoglobin research
Volume 40, 2016 - Issue 5
133
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Short Communication

Mutation in a Highly Conserved COOH-Terminal Residue of Krüppel-Like Factor 1 Associated with Elevated Hb F in a Compound Heterozygous β-Thalassemia Patient with a Nontransfusion-Dependent Thalassemia Phenotype

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Pages 361-364 | Received 29 Apr 2016, Accepted 17 Jun 2016, Published online: 22 Sep 2016

References

  • Martin A, Thompson AA. Thalassemias. Pediatr Clin North Am. 2013;60:1383–1391.
  • Thein SL. Genetic association studies in β-hemoglobinopathies. Hematology Am Soc Hematol Educ Program. 2013;2013:354–361.
  • Trecartin RF, Liebhaber SA, Chang JC, et al. Beta zero thalassemia in Sardinia is caused by a nonsense mutation. J Clin Invest. 1981;68:1012–1017.
  • Meloni A, Rosatelli MC, Faà V, et al. Promoter mutations producing mild beta-thalassaemia in the Italian population. Br J Haematol. 1992;80:222–226.
  • Galarneau G, Palmer CD, Sankaran VG. Fine-mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation. Nat Genet. 2010;42:1049–1051.
  • Labie D, Pagnier J, Lapoumeroulie C, et al. Common haplotype dependency of high G gamma-globin gene expression and high Hb F levels in beta-thalassemia and sickle cell anemia patients. Proc Natl Acad Sci USA. 1985;82:2111–2114.
  • Bauer DE, Orkin SH. Hemoglobin switching's surprise: the versatile transcription factor BCL11A is a master repressor of fetal hemoglobin. Curr Opin Genet Dev. 2015;33:62–70.
  • Bauer DE, Kamran SC, Lessard S, et al. An erythroid enhancer of BCL11A subject to genetic variation determines fetal hemoglobin level. Science. 2013;342:253–257.
  • Thein SL, Menzel S, Peng X, et al. Intergenic variants of HBS1L-MYB are responsible for a major quantitative trait locus on chromosome 6q23 influencing fetal hemoglobin levels in adults. Proc Natl Acad Sci USA. 2007;104:11346–11351.
  • Perkins A, Xu X, Higgs DR, et al. Krüppeling erythropoiesis: an unexpected broad spectrum of human red blood cell disorders due to KLF1 variants unveiled by genomic sequencing. Blood. 2016;127:1856–1862.
  • McConnell BB, Yang VW. Mammalian Krüppel-like factors in health and diseases. Physiol Rev. 2010;90:1337–1381.
  • Waye JS, Eng B. Krüppel-like factor 1: hematologic phenotypes associated with KLF1 gene mutations. Int J Lab Hematol. 2015;37:78–84.
  • Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods. 2010;7:248–249.
  • Ng PC, Henikoff S. Predicting deleterious amino acid substitutions. Genome Res. 2001;11:863–874.
  • Schwarz JM, Rodelsperger C, Schuelke M, Seelow D. MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods. 2010;7:575–576.
  • Reva B, Antipin Y, Sander C. Predicting the functional impact of protein mutations: Application to cancer genomics. Nucleic Acids Res. 2011;39:e118.
  • Badens C, Joly P, Agouti I, et al. Variants in genetic modifiers of β-thalassemia can help to predict the major or intermedia type of the disease. Haematologica. 2011;96:1712–1714.
  • Ristaldi MS, Cao A, Casula S. In vitro expression of the -87 beta-globin thalassemic mutations. Blood. 1995;86:2055–2056.
  • Borg J, Papadopoulos P, Georgitsi M, et al. Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin. Nat Genet. 2010;42:801–805.
  • Brayer KJ, Segal DJ. Keep your fingers off my DNA: protein–protein interactions mediated by C2H2 zinc finger domains. Cell Biochem Biophys. 2008;50:111–131.
  • Siatecka M, Sahr KE, Andersen SG, et al. Severe anemia in the Nan mutant mouse caused by sequence-selective disruption of erythroid Kruppel-like factor. Proc Natl Acad Sci USA. 2010;107:15151–15156.

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