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Hemoglobin
international journal for hemoglobin research
Volume 41, 2017 - Issue 1
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Original Article

Hb Bakersfield (HBA1: c.151_152insGGAGCC): The Insertion of Arg-His Between Codons 49 and 50 of the α1-Globin Chain Leads to Increased Oxygen Affinity

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Pages 1-5 | Received 05 Sep 2016, Accepted 06 Dec 2016, Published online: 22 May 2017

References

  • Dash S, Das R. Late emergence of polycythemia in a case of Hb Chandigarh [β94(FG1)Asp→Gly]. Hemoglobin. 2004;28(3):273–274.
  • Kister J, Baudin-Creuza V, Kiger L, et al. Hb Montfermeil [β130(H8)Tyr→Cys]: suggests a key role for the interaction between helix A and H in oxygen affinity of the hemoglobin molecule. Blood Cells Mol Dis. 2005;34(2):166–173.
  • Harteveld CL, Wijermans PW, van Delft P, et al. An α-thalassemia phenotype in a Dutch Hindustani, caused by a new point mutation that creates an alternative splice donor site in the first exon of the α2-globin gene. Hemoglobin. 2004;28(3):255–259.
  • 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.
  • 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)
  • Liu YT, Old JM, Miles K, et al. Rapid detection of α-thalassemia deletions and α-globin gene triplication by multiplex polymerase chain reactions. Br J Haematol. 2000;108(2):295–299.
  • Charache S, Weatherall DJ, Clegg JB. Polycythemia associated with a hemoglobinopathy. J Clin Invest. 1966;45(6):813–822.
  • Galacteros F, Loukopoulos D, Fessas P, et al. Hemoglobin Koln occurring in association with a β0 thalassaemia: hematologic and functional consequences. Blood. 1989;74(1):496–500.
  • Molchanova TP, Pobedimskaya DD, Huisman THJ. The differences in quantities of α2- and α1-globin gene variants in heterozygotes. Br J Haematol. 1994;88(2):300–306.
  • Moradkhani K, Prehu C, Old J, et al. Mutations in the paralogous human α-globin genes yielding identical hemoglobin variants. Ann Hematol. 2009;88(6):535–543.
  • Wajcman H, Galacteros F. Hemoglobins with high oxygen affinity leading to erythrocytosis. New variants and new concepts. Hemoglobin. 2005;29(2):91–106.
  • Srinivasulu S, Acharya AS, Prabhakaran M, et al. HbS-Savaria: the anti-polymerization effect of a single mutation in human alpha-chains. Protein J. 2007;26(8):523–532.
  • Moo-Penn WF, Swan DC, Hine TK, et al. Hb Catonsville (glutamic acid inserted between Pro-37(C2)α and Thr-38(C3)α). Nonallelic gene conversion in the globin system? J Biol Chem. 1989;264(36):21454–21457.
  • Wajcman H, Blouquit Y, Vasseur C, et al. Two new human hemoglobin variants caused by unusual mutational events: Hb Zaire contains a five residue repetition within the α-chain and Hb Duino has two residues substituted in the α-chain. Hum Genet. 1992;89(6):676–680.
  • Cleek MP, Gardiner MB, Reese AL, et al. The Atlanta family with Hemoglobin Grady revisited. Am J Hum Genet. 1983;35(6):1314–1316.
  • Huisman THJ, Wilson JB, Gravely M, et al. Hemoglobin Grady: the first example of a variant with elongated chains due to an insertion of residues. Proc Natl Acad Sci USA. 1974;71(8):3270–3273.
  • Prehu C, Groff P, Kalmes G, et al. Short insertion in a hemoglobin chain: Hb Esch, an unstable α1 variant with duplication of the sequence Ala65-Leu-Thr-Asn68. Blood Cells Mol Dis. 2003;31(2):234–239.
  • Leung RY, Ma ES, Chan AY, et al. Molecular diagnosis of a case of Hb Phnom Penh [α117(GH5)Phe-I1e-α118(H1)Thr (α1)]. Hemoglobin. 2006;30(3):397–399.

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