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Hemoglobin
international journal for hemoglobin research
Volume 44, 2020 - Issue 3
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Original Articles

A Wide Spectrum Study of α-Globin Chain Variants: Cases from the UK

ORCID Icon, , , , ORCID Icon &
Pages 195-200 | Received 17 May 2020, Accepted 26 May 2020, Published online: 29 Jun 2020

References

  • Patrinos GP, Giardine B, Riemer C, et al. Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies. Nucleic Acids Res. 2004;32(Database issue):D537–D541 (http://globin.cse.psu.edu).
  • Giardine B, Borg J, Viennas E, et al. Updates of the HbVar database of human hemoglobin variants and thalassemia mutations. Nucleic Acids Res. 2014;42(Database issue):D1063–1069 (http://globin.cse.psu.edu).
  • Kimura EM, Oliveira DM, Jorge SE, et al. Investigating α-globin structural variants: a retrospective review of 135,000 Brazilian individuals. Rev Bras Hematol Hemoter. 2015;37(2):103–108.
  • Moradkhani K, Préhu C, Old J, et al. Mutations in the paralogous human α-globin genes yielding identical hemoglobin variants. Ann Hematol. 2009;88(6):535–543.
  • Steinberg MH, Forget BG, Higgs DR, Nagel RL, editors. Disorders of Hemoglobin Genetics, Pathophysiology, and Clinical Management, 1st ed. New York (NY, USA): Cambridge University Press, 2001.
  • Huang K, Ge S, Yi W, et al. Interactions of unstable Hemoglobin Rush with thalassemia and Hemoglobin E result in thalassemia intermedia. Hematology. 2019;24(1):459–466.
  • Olatunya OS, Albuquerque DM, Adekile A, et al. Influence of α thalassemia on clinical and laboratory parameters among Nigerian children with sickle cell anemia. J Clin Lab Anal. 2019;33(2):e22656.
  • Joutovsky A, Hadzi-Nesic J, Nardi MA, et al. HPLC retention time as a diagnostic tool for hemoglobin variants and hemoglobinopathies: a study of 60000 samples in a clinical diagnostic laboratory. Clin Chem. 2004;50(10):1736–1747.
  • Lee YK, Kim HJ, Lee K, et al. Recent progress in laboratory diagnosis of thalassemia and hemoglobinopathy: a study by the Korean Red Blood Cell Disorder Working Party of the Korean Society of Hematology. Blood Res. 2019;54(1):17–22.
  • Khalil MS, Molyneux AT, Marouf S, et al. The accurate prediction of rare hemoglobin variants using a combination of high performance liquid chromatography, retention time and isoelectric focusing electrophoresis position. Saudi Med J. 2009;30(9):1158–1164.
  • Khalil MS, Timbs A, Henderson S, et al. Haemoglobin (Hb) G-Philadelphia, Hb Stanleyville-II, Hb G-Norfolk, Hb Matsue-Oki and Hb Mizushi can form a panel of α-chain variants that overlap in their phenotype: the novel use of StyI to screen for Hb G-Philadelphia. Int J Lab Hematol. 2011;33(3):318–325.
  • Khalil MS, Henderson S, Schuh A, et al. The first use of EaeI restriction enzyme in DNA diagnosis of Hb Q-India. Int J Lab Hematol. 2011;33(5):492–497.
  • Bain BJ. Haemoglobinopathy Diagnosis, 2nd ed. Oxford (Oxfordshire, UK): Blackwell Publishing; 2006.
  • Henderson SJ, Timbs AT, McCarthy J, et al. Ten years of routine α- and β-globin gene sequencing in UK hemoglobinopathy referrals reveals 60 novel mutations. Hemoglobin. 2016;40(2):75–84.
  • Lacan P, Aubry M, Couprie N, et al. Two new α chain variants: Hb Die [α93(FG5)Val → Ala (α1)] and Hb Beziers [α99(G6)Lys → Asn (α1)]. Hemoglobin. 2004;28(1):59–63.
  • Farashi S, Harteveld CL. Molecular basis of α-thalassemia. Blood Cells Mol Dis. 2018;70:43–53.
  • Pyae AC, Srivorakun H, Chaibunruang A, et al. Molecular survey of hemoglobinopathies in Myanmar workers in Northeast Thailand revealed an unexpectedly high prevalence of α+-thalassemia. Hemoglobin. 2019;43(4-5):254–257.

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