Publication Cover
Hemoglobin
international journal for hemoglobin research
Volume 40, 2016 - Issue 6
216
Views
10
CrossRef citations to date
0
Altmetric
Short Communication

An Unusual Hydrops Fetalis Associated with Compound Heterozygosity for Krüppel-like Factor 1 mutations

, , , , , , , , , & show all
Pages 431-434 | Received 07 Oct 2016, Accepted 30 Oct 2016, Published online: 31 Mar 2017

References

  • Arnaud L, Saison C, Helias V, et al. A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia. Am J Hum Genet 2010;87(5):721–727.
  • Jaffray JA, Mitchell WB, Gnanapragasam MN, et al. Erythroid transcription factor EKLF/KLF1 mutation causing congenital dyserythropoietic anemia type IV in a patient of Taiwanese origin: review of all reported cases and development of a clinical diagnostic paradigm. Blood Cells Mol Dis 2013;51(2):71–75.
  • Viprakasit V, Ekwattanakit S, Riolueang S, et al. Mutations in Kruppel-like factor 1 cause transfusion-dependent hemolytic anemia and persistence of embryonic globin gene expression. Blood 2014;123(10):1586–1595.
  • Magor GW, Tallack MR, Gillinder KR, et al. KLF1-null neonates display hydrops fetalis and a deranged erythroid transcriptome. Blood 2015;125(15):2405–2417.
  • Perkins A, Xu X, Higgs DR, KLF1 Consensus Workgroup, et al. Krüppeling erythropoiesis: an unexpected broad spectrum of human red blood cell disorders due to KLF1 variants. Blood 2016;127(15):1856–1862.
  • Siatecka M, Bieker JJ. The multifunctional role of EKLF/KLF1 during erythropoiesis. Blood 2011;118(8):2044–2054.
  • Borg J, Patrinos GP, Felice AE, Philipsen S. Erythroid phenotypes associated with KLF1 mutations. Haematologica 2011;96(5):635–638.
  • Singleton BK, Burton NM, Green C, et al. Mutations in EKLF/KLF1 form the molecular basis of the rare blood group In(Lu) phenotype. Blood 2008;112(5):2081–2088.
  • 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(9):801–805.
  • Huang J, Zhang X, Liu D, et al. Compound heterozygosity for KLF1 mutations is associated with microcytic hypochromic anemia and increased fetal hemoglobin. Eur J Hum Genet 2015;23(10):1341–1348.
  • Lou JW, Li DZ, Zhang Y, et al. Delineation of the molecular basis of borderline Hemoglobin A2 in Chinese individuals. Blood Cells Mol Dis 2014;53(4):261–264.
  • Sorolla A, Tallack MR, Oey H, et al. Identification of novel hypomorphic and null mutations in Klf1 derived from a genetic screen for modifiers of α-globin transgene variegation. Genomics 2015;105(2):116–122.
  • Waye JS, Eng B. Krüppel-like factor 1: hematologic phenotypes associated with KLF1 gene mutations. Int J Lab Hematol 2015;37(Suppl1):78–84.
  • Liu D, Zhang X, Yu L, et al. KLF1 mutations are relatively more common in a thalassemia endemic region and ameliorate the severity of β-thalassemia. Blood 2014;124(5):803–811.
  • Salomon LJ, Alfirevic Z, Berghella V, ISUOG Clinical Standards Committee, et al. Practice guidelines for performance of the routine mid-trimester fetal ultrasound scan. Ultrasound Obstet Gynecol 2011;37(1):116–126.
  • Kou KO, Lee H, Lau B, et al. Two unusual cases of haemoglobin Bart's hydrops fetalis due to uniparental disomy or non-paternity. Fetal Diagn Ther 2014;35(4):306–308.
  • Carr S, Rubin L, Dixon D, et al. Intrauterine therapy for homozygous alpha-thalassemia. Obstet Gynecol 1995;85(5 Pt 2):876–879.
  • Wang CL, Ryan G. Transfusion medicine illustrated: intrauterine transfusion for homozygous α0 thalassemia reverses hydrops fetalis. Transfusion 2009;49(6):1043–1044.
  • Iolascon A, Heimpel H, Wahlin A, Tamary H. Congenital dyserythropoietic anemias: molecular insights and diagnostic approach. Blood 2013;122(13):2162–2166.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.