Publication Cover
Hemoglobin
international journal for hemoglobin research
Volume 34, 2010 - Issue 4
123
Views
3
CrossRef citations to date
0
Altmetric
Original Article

Characterization of Three Novel δ Chain Hemoglobin Variants and Two δ-Thalassemia Alleles

, , , , , & show all
Pages 374-382 | Received 18 Nov 2009, Accepted 05 May 2010, Published online: 19 Jul 2010

REFERENCES

  • Steinberg MH, Adams JG III. Hemoglobin A2: origin, evolution, and aftermath. Blood. 1991;78(9):2165–2177.
  • Giambona A, Passarello C, Vinciguerra M, Significance of borderline Hemoglobin A2 values in an Italian population with a high prevalence of β-thalassemia. Haematologica. 2008;93(9):1380–1384.
  • Giambona A, Passarello C, Ruggeri G, Analysis of δ-globin gene alleles in the Sicilian population: identification of five new mutations. Haematologica. 2006;91(12):1681–1684.
  • Waye JS, Patterson M, Walker L, β-Thalassemia in association with a new δ chain hemoglobin variant [δ116(G18)Arg→Leu]: implications for carrier screening and prenatal diagnosis. Am J Hematol. 2003;74(3):179–181.
  • Giardine B, van Baal S, Kaimakis P, et al. HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update. Hum Mutat. 2007;28(2):206 (DOI: 10.1002/humu.9479). (http://globin.bx.psu.edu/hbvar/).
  • Zurbriggen K, Schmugge M, Schmid M, Analysis of minor hemoglobins by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. Clin Chem. 2005;51(6):989–996.
  • Patterson M, Walker L, Chui DHK, Cohen AR, Waye JS. Identification of a new β-thalassemia nonsense mutation [codon 59 (AAG→TAG)]. Hemoglobin. 2003;27(3):201–203.
  • Frischknecht H, Dutly F. Two new δ-globin gene mutations: Hb A2-Ninive [δ133(H11)Val→Ala] and a δ+-thalassemia mutation [−31 (A→G)] in the TATA box of the δ-globin gene. Hemoglobin. 2005;29(2):151–154.
  • Trifillis P, Kyrri A, Kalogirou E, Analysis of δ-globin gene mutations in Greek Cypriots. Blood. 1993;82(5):1647–1651.
  • Trifillis P, Adachi K, Yamaguchi T, Schwartz E, Surrey S. Expression studies of δ-globin gene alleles associated with reduced Hemoglobin A2 levels in Greek Cypriots. J Biol Chem. 1996;271(43):26931–26938.
  • Kyte J, Doolittle RF. A simple method for displaying the hydropathic character of a protein. J Mol Biol. 1982;157(1):105–132.
  • White JM, Brain MC, Lorkin PA, Lehmann H, Smith M. Mild “unstable haemoglobin haemolytic anaemia” caused by Haemoglobin Shepherds Bush β74(E18)Gly→Asp. Nature. 1970;225(236):939–941.
  • Blouquit Y, Braconnier F, Galacteros F, Hemoglobin Hotel-Dieu β99Asp→Gly(G1). A new abnormal hemoglobin with high oxygen affinity. Hemoglobin. 1981;5(1):19–31.
  • Saba L, Meloni A, Sardu R, A novel β-thalassemia mutation (G→A) at the initiation codon of the β-globin gene. Hum Mutat. 1992;1(5):420–422.
  • Landin B, Rudolphi O, Ek B. Initiation codon mutation (ATG→ATA) of the β-globin gene causing β-thalassemia in a Swedish family. Am J Hematol. 1995;48(3):158–162.
  • Waye JS, Eng B, Patterson M, Barr RD, Chui DHK. De novo mutation of the β-globin gene initiation codon (ATG→AAG) in a northern European boy. Am J Hematol. 1997;56(3):179–182.
  • Treisman R, Proudfoot NJ, Shander M, Maniatis T. A single-base change at a splice site in a β0-thalassemic gene causes abnormal RNA splicing. Cell. 1982;29(3):903–911.

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.