Publication Cover
Hemoglobin
international journal for hemoglobin research
Volume 38, 2014 - Issue 3
279
Views
11
CrossRef citations to date
0
Altmetric
Research Article

A Study of δ-Globin Gene Mutations in the UK Population: Identification of Three Novel Variants and Development of a Novel DNA Test for Hb A′2

, , , , , , & show all
Pages 201-206 | Received 20 Jul 2013, Accepted 25 Oct 2013, Published online: 06 Mar 2014

References

  • Lacerra G, Scarano C, Lagona LF, et al. Genotype-phenotype relationship of the δ-thalassemia and Hb A2 variants: Observation of 52 genotypes. Hemoglobin. 2010;34(5):407–423
  • Morgado A, Picanço I, Gomes S, et al. Mutational spectrum of δ-globin gene in the Portuguese population. Eur J Hematol. 2007;79(5):422–428
  • Moumni I, Zorai A, Daoued BB, et al. Hb A2-Pasteur-Tunis [δ59(E3)Lys → Asn, AAG → AAC]: a new δ chain variant detected by DNA sequencing in a Tunisian carrier of the codon 39 (C → T) β0-thalassemia mutation. Hemoglobin. 2007;31(1):23–29
  • 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):D537-541 (http://globin.csu.psu.edu)
  • Old JM, Higgs DR. Gene analysis. In: Weatherall DJ, Ed. The Thalassemias, Methods in Hematology, Vol. 6. Edinburgh: Churchill Livingstone. 1983:74–102
  • Old J, Khan S, Verma I, et al. A multi-centre study in order to define further the molecular basis of β-thalassemia in Thailand, Pakistan, Sri Lanka, Mauritius, Syria, and India, and to development a simple molecular diagnostic strategy by ARMS-PCR. Hemoglobin. 2001;25(4):397–407
  • Liu YT, Old JM, Miles K, et al. Rapid detection of α-thalassaemia deletions and α-globin gene triplication by multiplex PCRs. Br J Haematol. 2000;108(7):295–299
  • Moi P, Paglietti E, Sanna A, et al. Delineation of the molecular basis of δ- and normal Hb A2 β-thalassemia. Blood. 1988;72(2):530–533
  • Trifillis P, Ioannou P, Schwartz E, Surrey S. Identification of four novel δ-globin gene mutations in Greek Cypriots using polymerase chain reaction and automated fluorescence-based DNA sequence analysis. Blood. 1991;78(12):3298–3305
  • Trifillis P, Kyrri A, Kalogirou E, et al. Analysis of δ-globin gene mutations in Greek Cypriots. Blood. 1993;82(5):1647–1651
  • Bouva MJ, Harteveld CL, van Delft P, Giordano PC. Known and new δ globin gene mutations and their diagnostic significance. Hematologica. 2006;91(1):129–132
  • Horton B, Payne RA, Bridges MT, Huisman THJ. Studies on abnormal minor Hb component (Hb-B2). Clin Chim Acta. 1961;6:246–253
  • Jones RT, Brimhall B, Huisman THJ. Structural characterization of two δ chain variants. J Biol Chem. 1967;242(21):5141–5145
  • Bennani M, Mombo LE, Chaventre A, et al. Origin of Hb A′2 (Hb B2) [δ16(A13)Gly → Arg (GGC → CGC)]. Hemoglobin. 2003;27(2):105–110
  • Daar S, Al Zadjali S, Gravell D, et al. Hb A′2 (Hb B2) in the Omani population and diagnostic significance. Hemoglobin. 2011;35(2):117–124
  • Eng LI, Pribadi W, Westendorp Boerma F, et al. Hemoglobin A2-Indonesia or α2δ2 69 (E13) Gly → Arg. Biochim Biophys Acta. 1971;229(2):335–342
  • Pavlou E, Phylactides M, Kyrri A, et al. δ-Thalassemia in Cyprus. Hemoglobin. 2006;30(4):455–462

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.