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Hemoglobin
international journal for hemoglobin research
Volume 39, 2015 - Issue 1
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Short Communication

Hb Souli, a 6 bp In-Frame Deletion on the HBA2 Gene (HBA2: c.[41-46delCCTGGG]) Leads to α-Thalassemia Intermedia, When in Trans to a Single α-Globin Gene Deletion

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Pages 55-57 | Received 15 Apr 2014, Accepted 18 Jun 2014, Published online: 05 Dec 2014

References

  • Traeger-Synodinos J, Douna V, Papassotiriou I, et al. Variable and often severe phenotypic expression in patients with the α-thalassemic variant Hb Agrinio [α29(B10)Leu → Pro (α2)]. Hemoglobin. 2010;34(5):430–438
  • Harteveld CL, Yavarian M, Zorai A, et al. Molecular spectrum of α-thalassemia in the Iranian population of Hormozgan: Three novel point mutation defects. Am J Hematol. 2003;74(2):99–103
  • Hergersberg M, Brunner-Agten S, Kühne T, et al. A new stable α chain variant: Hb Basel [α14(A12)Trp → Leu (α1)]. Hemoglobin. 2010;34(3):327–231
  • Honig GR, Shamsuddin M, Vida LN, et al. Hemoglobin Evanston (α14 Trp → Arg). An unstable α-chain variant expressed as α-thalassemia. J Clin Invest. 1984;73(6):1740–1749
  • Harteveld CL, Wijermans PW, de Ree JE, et al. A new Hb Evanston allele [α14(A12)Trp → Arg] found solely, and in the presence of common α-thalassemia deletions, in three independent Asian cases. Hemoglobin. 2004;28(1):1–5
  • Das R, Garewal G, Shaji RV, et al. Investigation of persistent hypochromic microcytosis unmasks Hemoglobin Evanston [α14(A12)Try → Arg] in a patient of cyclic thrombocytopenia preceding Takayasu’s disease. Hematology. 2005;10(5):427–429
  • Wajcman H, Traeger-Synodinos J, Papassotiriou I, et al. Unstable and thalassemic α chain hemoglobin variants: A cause of Hb H disease and thalassemia intermedia. Hemoglobin. 2008;32(4):327–349
  • Moo-Penn WF, Baine RM, Jue DL, et al. Hemoglobin Evanston: α14(A12)Trp → Arg. A variant hemoglobin associated with α-thalassemia–2. Biochim Biophys Acta. 1983;747(1–2):65–70
  • Yu X, Kong Y, Dore LC, et al. An erythroid chaperone that facilitates folding of α-globin subunits for hemoglobin synthesis. J Clin Invest. 2007;117(7):1856–1865
  • Yuan Y, Simplaceanu V, Lukin JA, Ho C. NMR investigation of the dynamics of tryptophan side-chains in hemoglobins. J Mol Biol. 2002;321(5):863–878
  • Papassotiriou I, Traeger-Synodinos J, Vlachou C, et al. Rapid and accurate quantitation of Hb Bart’s and Hb H using weak cation exchange high performance liquid chromatography: correlation with the α-thalassemia genotype. Hemoglobin. 1999;23(3):203–211
  • HbVar database (http://globin.bx.psu.edu.cgi-bin/hbvar)

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