Characterization of Two Novel Deletions Involving the 5′ Region of the β-Globin Gene

References

• 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 (http://globin.cse.psu.edu).
   PubMed Web of Science ®Google Scholar
• Waye JS, Eng B, Hunt JA, Chui DHK. Filipino β-thalassemia deletion due to a large deletion: identification of the deletion endpoints and polymerase chain reaction (PCR)-based diagnosis. Hum Genet. 1994;94(5):530–532.
   PubMed Web of Science ®Google Scholar
• Ko TM, Caviles AP Jr, Hwa HL, et al. Prevalence and molecular characterization of β-thalassemia in Filipinos. Ann Hematol. 1998;77(6):257–260.
   PubMed Web of Science ®Google Scholar
• Thein SL, Wood WG. The molecular basis of β thalassemia, δβ thalassemia, and hereditary persistence of fetal hemoglobin. In: Steinberg MH, Forget BG, Higgs DR, Weatherall DJ, Editors. Disorders of Hemoglobin Genetics, Pathophysiology, and Clinical Management, 2nd ed. New York, NY, USA: Cambridge University Press. 2009:323–356.
   Google Scholar
• Codrington JF, Li H-W, Kutlar F, et al. Observations on the levels of Hb A2 in patients with different β-thalassemia mutations and a δ chain variant. Blood. 1990;76(6):1246–1249.
   PubMed Web of Science ®Google Scholar
• Waye JS, Eng B. Diagnostic testing for α-globin gene disorders in a heterogeneous North American population. Int J Lab Hematol. 2013;35(5):306–313.
   PubMed Web of Science ®Google Scholar
• Thein SL, Wainscoat JS, Sampietro M, et al. Association of thalassaemia intermedia with a β-globin gene haplotype. Br J Haematol. 1987;65(3):367–373.
   PubMed Web of Science ®Google Scholar
• Sankaran VG, Xu J, Byron R, et al. A functional element necessary for fetal hemoglobin silencing. N Engl J Med. 2011;365(9):807–814.
   PubMed Web of Science ®Google Scholar
• De Angioletti M, Sabato V, Musollino G, et al. South-Italy β0-thalassemia: a novel deletion not removing the γ-globin silencing element and with 3′ breakpoint in a hsRTVL-H element, associated with β0-thalassemia and high levels of Hb F. Haematologica. 2013;98(8):e98–e100.
   PubMed Web of Science ®Google Scholar
• Popovich BA, Rosenblatt DS, Kendall AG, Nishioka Y. Molecular characterization of an atypical β-thalassemia caused by a large deletion in the 5′ β-globin gene region. Am J Hum Genet. 1986;39(6):797–810.
   PubMed Web of Science ®Google Scholar
• Mayuranathan T, Rayabaram J, Edison E, et al. A novel deletion of β globin promoter causing high Hb A2 in Indian population. Haematologica. 2012;97(9):1445–1447.
   PubMed Web of Science ®Google Scholar
• Craig JE, Kelly SJ, Barnetson R, Thein SL. Molecular characterization of a novel 10.3 kb deletion causing β-thalassaemia with unusually high Hb A2. Br J Haematol. 1992;82(4):735–744.
   PubMed Web of Science ®Google Scholar
• Gilman JG. The 12.6 kilobase deletion in a Dutch β0-thalassaemia. Br J Haematol. 1987;67(3):369–372.
   PubMed Web of Science ®Google Scholar
• Pissard S, Raclin V, Lacan P, et al. Characterization of three new deletions in the β-globin gene cluster during a screening survey in two French urban areas. Clin Chim Acta. 2013;415(1):35–40.
   PubMed Web of Science ®Google Scholar
• Xu X-M, Li Z-Q, Liu Z-Y, et al. Molecular characterization and PCR-detection of a deletional HPFH: application to rapid prenatal diagnosis for compound heterozygotes of this defect with β-thalassemia in a Chinese family. Am J Hematol. 2000;65(3):183–188.
   PubMed Web of Science ®Google Scholar
• Cui J, Azimi M, Baysdorfer C, et al. Application of multiplex ligation-dependent probe amplification to screen for β-globin cluster deletions: detection of two novel deletions in a multiethnic population. Hemoglobin. 2013;37(3):241–256.
   PubMed Web of Science ®Google Scholar
• Dimovski AJ, Efremov DG, Jankovic L, et al. A β0-thalassaemia due to a 1605 bp deletion of the 5′ β-globin gene region. Br J Haematol. 1993;85(1)143–147.
   PubMed Web of Science ®Google Scholar
• Motum PI, Lindeman R, Hamilton TJ, Trent RJ. Australian β0-thalassaemia: a high Haemoglobin A2 β0-thalassaemia due to a 12 kb deletion commencing 5′ to the β-globin gene. Br J Haematol. 1992;82(1)107–113.
   PubMed Web of Science ®Google Scholar
• Lynch JR, Brown JM, Best S, et al. Characterization of the breakpoint of a 3.5-kb deletion of the β-globin gene. Genomics. 1991;10(2):509–511.
   PubMed Web of Science ®Google Scholar
• Huang CH, Chang YY, Chen CH, Ko TM. Molecular characterization of a β-globin gene deletion of 1357 bp in a Taiwanese β-thalassemia carrier. Hemoglobin. 2008;32(5)498–504.
   PubMed Web of Science ®Google Scholar
• Anand R, Boehm CD, Kazazian HH Jr, Vanin EF. Molecular characterization of a β0-thalassemia resulting from a 1.4 kilobase deletion. Blood. 1988;72(2):636–641.
   PubMed Web of Science ®Google Scholar
• Thein SL, Hesketh C, Brown JM, et al. Molecular characterization of a high A2 β-thalassemia by direct nucleotide sequencing of single-strand enriched amplified genomic DNA. Blood. 1989;73(4):924–930.
   PubMed Web of Science ®Google Scholar
• Gallienne AE, Iberson NM, Dréau HM, et al. Characterization of a novel deletion causing β-thalassemia in an Afghan family. Hemoglobin. 2010;34(1):110–114.
   PubMed Web of Science ®Google Scholar
• Kueviakoe I, Gerard N, Krishnamoorthy R, et al. A new high Hb A2-β-thalassemia due to a 468 bp deletion (–475 to –8) in the β-globin gene promoter of the intact β-globin structural gene. Hemoglobin. 2004;28(1):69–72.
   PubMed Web of Science ®Google Scholar
• Waye JS, Cai SP, Eng B, et al. High Hemoglobin A2 β-thalassemia due to a 532-basepair deletion of the 5′ β-globin gene region. Blood. 1991;77(5)1100–1103.
   PubMed Web of Science ®Google Scholar
• Joly P, Lacan P, Garcia C, et al. Identification and molecular characterization of four new large deletions in the β-globin gene cluster. Blood Cells Mol Dis. 2009;43(1):53–57.
   PubMed Web of Science ®Google Scholar
• Spiegelberg R, Aulehla-Scholz C, Erlich H, Horst JA. A β-thalassemia gene caused by a 290-base pair deletion: analysis by direct sequencing of enzymatically amplified DNA. Blood. 1989;73(6):1695–1698.
   PubMed Web of Science ®Google Scholar
• Lee S-T, Yoo E-H, Kim J-Y, et al. Multiplex ligation-dependent probe amplification screening of isolated increased Hb F levels revealed three cases of novel rearrangements/deletions in the β-globin gene cluster. Br J Haematol. 2010;148(1):154–160.
   PubMed Web of Science ®Google Scholar
• Nopparatana C, Saechan V, Nopparatana C, et al. A novel 105 basepair deletion causing β0-thalassemia in members of a Thai family. Am J Hematol. 1999;61(1)1–4.
   PubMed Web of Science ®Google Scholar
• Bauer DE, Orkin SH. Update on fetal hemoglobin gene regulation in hemoglobinopathies. Curr Opin Pediatr. 2011;23(1):1–8.
   PubMed Web of Science ®Google Scholar
• Waye JS, Chui DHK, Eng B, et al. Hb S/β0-thalassemia due to the ∼1.4 kb deletion is associated with a relatively mild phenotype. Am J Hematol. 1991;38(2):108–112.
   PubMed Web of Science ®Google Scholar
• Tadmouri GO, Yüksel L, Başak AN. Hb S/βdel-thalassemia associated with high levels of Hemoglobins A2 and F in a Turkish family. Am J Hematol. 1998;59(1)83–86.
   PubMed Web of Science ®Google Scholar
• Patterson M, Walker L, Eng B, Waye JS. High Hb A2 β-thalassemia due to a 468 bp deletion in a patient with Hb S/β-thalassemia. Hemoglobin. 2005;29(4):293–295.
   PubMed Web of Science ®Google Scholar
• Daniel Y, Hill K, Inussa B, et al. Sickle cell/β0-thalassemia associated with the 1393 bp deletion can be associated with a severe phenotype. Hemoglobin. 2011;35(4)406–410.
   PubMed Web of Science ®Google Scholar
• Faustino P, Reis AB, Feliciano H, et al. Asymptomatic homozygous deletional β0-thalassemia in an African individual. Am J Hematol. 2002;70(3):232–236.
   PubMed Web of Science ®Google Scholar
• Teh LK, George E, Lai MI, et al. Molecular basis of transfusion-dependent β-thalassemia major patients in Sabah. J Hum Genet. 2014;59(3):119–123.
   PubMed Web of Science ®Google Scholar
• Eng B, Chui DHK, Saunderson J, et al. Identification of two novel β0-thalassemia mutations in a Filipino family: frameshift codon 67 (–TG) and a β-globin gene deletion. Hum Mutat. 1993;2(5):375–379.
   PubMed Web of Science ®Google Scholar