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Hemoglobin
international journal for hemoglobin research
Volume 39, 2015 - Issue 2
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Original Article

Hb Lansing (HBA2: c.264C > G) and a New β Promoter Transversion [−52 (G > T)]: An Attempt to Define the Phenotype of Two Mutations Found in the Omani Population

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Pages 111-114 | Received 05 Sep 2014, Accepted 17 Oct 2014, Published online: 31 Mar 2015

References

  • Wajcman H, Traeger-Synodinos J, Papassotiriou I, et al. Unstable and thalassemic α chain haemoglobin variants: A cause of Hb H disease and thalassemia intermedia. Hemoglobin. 2008;32(4):327–349
  • Abdulmalik O, Safo MK, Lerner NB, et al. Characterization of Haemoglobin Bassett (α94Asp → Ala), a variant with very low oxygen affinity. Am J Hematol. 2004;77(3):268–276
  • 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
  • Liu YT, Old JM, Miles K, et al. Rapid detection of α-thalassaemia deletions and α-globin gene triplication by multiplex polymerase chain reactions. Br J Haematol. 2000;108(2):295–299
  • 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
  • Sarikonda KV, Ribeiro RS, Herrick JL, Hoyer JD. Hemoglobin Lansing: A novel hemoglobin variant causing falsely decreased oxygen saturation by pulse oximetry. Am J Hematol. 2009;84(8):541
  • Ishitsuka K, Uchino J, Kato J, et al. First reported case of Hemoglobin Lansing in Asia detected by false low oxygen saturation on pulse oximetry. Int J Hematol. 2012;95(6):731–732
  • Brennan SO, Matthews JR. Hb Auckland [α87(F8)His → Asn]: A new mutation of the proximal histidine identified by electrospray mass spectrometry. Hemoglobin. 1997;21(5):393–403
  • Ohba Y, Miyaji T, Hattori Y, et al. Unstable hemoglobins in Japan. Hemoglobin. 1980;4(3–4):307–312
  • Mayne EE, Elder GE, Lappin TR, Ferguson LA. Hb M Iwate [α287His → Tyrβ2]: De novo mutation in an Irish family. Hemoglobin. 1986;10(2):205–208
  • Schrier SL, Bunyaratvej A, Khuhapinant A, et al. The unusual pathobiology of Hemoglobin Constant Spring red blood cells. Blood. 1997;89(5):1762–1769
  • Orkin SH, Goff SC. The duplicated human α-globin genes: Their relative expression as measured by RNA analysis. Cell. 1981;24(2):345–351
  • Verhovsek M, Henderson MP, Cox G, et al. Unexpectedly low pulse oximetry measurements associated with variant hemoglobins: A systematic review. Am J Hematol. 2011;85(11):882–885
  • Giordano PC. Editorial: Measurement of Hb A2. Int J Lab Hematol. 2012;34(4):335. doi: 10.111/j.1751-553X.2012.01399.x
  • Li Q, Fang X, Olave I, et al. Transcriptional potential of the γ-globin gene is dependent on the CACCC box in a developmental stage-specific manner. Nucleic Acids Res. 2006;34(14):3909–3916
  • Marini MG, Asunis I, Porcu L, et al. The distal β-globin CACCC box is required for maximal stimulation of the β-globin gene by EKLF. Br J Haematol. 2004;127(1):114–117
  • Gordon CT, Fox VJ, Najdovska S, et al. C/EBPδ and C/EBPγ Bind the CCAAT-box in the human β-globin promoter and modulate the activity of the CACC-box binding protein, EKLF. Biochim Biophys Acta. 2005;1729(1):74–80
  • Gonzalez-Redondo JM, Stoming TA, Kutlar A, et al. A C > T substitution at nt −101 in a conserved DNA sequence of the promoter region of the β-globin gene is associated with ‘silent’ β-thalassemia. Blood. 1989;73(6):1705–1711
  • Al Zadjali S, Wali Y, Al Lawatiya F, et al. The β-globin promoter −71 C > T mutation is a β+ thalassemic allele. Eur J Haematol. 2011;87(5):457–460
  • Stuve LL, Myers RM. A directly repeated sequence in the β-globin promoter regulates transcription in murine erythroleukemia cells. Mol Cell Biol. 1990;10(3):972–981
  • Li DZ, Liao C, Xie XM, Zhou JY. A novel mutation of −50 (G → A) in the direct repeat element of the β-globin gene identified in a patient with severe β-thalassemia. Ann Hematol. 2009;88(11):1149–1150
  • Irenge LM, Heusterspreute M, Philippe M, et al. Validation of a recombinant DNA construct (micro LCR and full-length β-globin gene) for quantification of human β-globin expression: Application to mutations in the promoter, intronic, and 5′- and 3′-untranslated regions of the human β-globin gene. Clin Chem. 2002;48(10):1787–1791
  • Hassan SM, Hamza N, Jaffer Al-Lawatiya F, et al. Extended molecular spectrum of β- and α-thalassemia in Oman. Hemoglobin. 2010;34(2):127–134
  • Nagel RL, Daar S, Romero JR, et al. Hb S-Oman heterozygote: A new dominant sickle syndrome. Blood. 1998;92(11):4375–4382

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