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Hemoglobin
international journal for hemoglobin research
Volume 38, 2014 - Issue 5
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Research Article

Characterization of Hb Calvino (HBB: c.406G > A): A New Silent β-Globin Gene Variant Found in Coexistence with α-Thalassemia in a Family of African Origin

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Pages 369-372 | Received 29 Nov 2013, Accepted 22 Feb 2014, Published online: 15 Sep 2014

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)
  • Harteveld CL, Higgs DR. α-Thalassaemia. Orph J Rare Dis. 2010;5:13
  • Higgs DR, Weatherall DJ. The α thalassaemias. Cell Mol Life Sci. 2009;66(7):1154–1162
  • Cao A, Galanello R. β-Thalassemia. Genet Med. 2010;12(2):61–76
  • Ivaldi G, Barberio G, Carta M, et al. Diagnosi di laboratorio e prevenzione delle emoglobinopatie: Considerazioni e proposte sulla comunicazione del risultato degli esami di primo livello. Biochim Clin. 2010;34(4):277–282
  • van Delft P, Lenters E, Bakker-Verweij M, et al. Evaluating five dedicated automatic devices for haemoglobinopathy diagnostics in multi-ethnic populations. Int J Lab Hematol. 2009;31(5):484–495
  • Stephens AD, Angastiniotis M, Baysal E, et al. International Council for Standardisation of Haematology (ICSH) recommendations for the measurement of Haemoglobin A2. Int J Lab Hematol. 2012;34(1):1–13
  • Stephens AD, Angastiniotis M, Baysal E, et al. International Council for Standardisation of Haematology (ICSH) recommendations for the measurement of Haemoglobin F. Int J Lab Hematol. 2012;34(1):14–20
  • HbVar Database (http://globin.cse.psu.edu) accessed 10 March 2012
  • Marti HR, Winterhalter KH, di Iorio EE, et al. Hb Altdorf α2β2135(H13)Ala → Pro: A new electrophoretically silent unstable haemoglobin variant from Switzerland. FEBS Lett. 1976;63(1):193–196
  • Rahbar S, Lee T, Asmeron Y. Hb Beckman α2β2135(H13)Ala → Pro: A new unstable variant and reduced oxygen affinity (Abstract). Blood. 1991;78(Suppl 1):204a
  • Zurbriggen K, Schmid M, Schmugge M, et al. Hb Alperton [β135(H13)Ala → Val] shows decreased oxygen affinity. Hemoglobin. 2009;33(6):498–502

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