Publication Cover
Hemoglobin
international journal for hemoglobin research
Volume 35, 2011 - Issue 4
192
Views
6
CrossRef citations to date
0
Altmetric
Original Article

A Novel Deletion/Insertion Caused by a Replication Error in the β-Globin Gene Locus Control Region

, , , , &
Pages 316-322 | Received 21 Jan 2011, Accepted 12 Feb 2011, Published online: 28 Jul 2011

REFERENCES

  • Li Q, Peterson KR, Fang X, Stamatoyannopoulos G. Locus control regions. Blood. 2002;100(9):3077–3086.
  • Palstra RJ, de Laat W, Grosveld F. β-Globin regulation and long-range interactions. Adv Genet. 2008;61(?):107–142.
  • 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, eds. Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management. Cambridge: Cambridge University Press. 2009:323–356.
  • Wood WG. The molecular basis of β-thalassemia, δβ-thalassemia, and hereditary persistence of fetal hemoglobin. In: Steinberg MH, Forget BG, Higgs DR, Nagel RL, eds. Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management. Cambridge: Cambridge University Press. 2001:356–388.
  • Lacan P, Kister J, Francina A, Hemoglobin Debrousse [β96(FG3)Leu→Pro]: a new unstable hemoglobin with twofold increased oxygen affinity. Am J Hematol. 1996;51(4):276–281.
  • Riou J, Godart C, Hurtrel D, Cation-exchange HPLC evaluated for presumptive identification of hemoglobin variants. Clin Chem. 1997;43(1):34–39.
  • Zanella-Cleon I, Becchi M, Lacan P, Detection of a thalassemic α-chain variant (Hemoglobin Groene Hart) by reversed phase liquid chromatography. Clin Chem. 2008;54(6):1053–1059.
  • Chong SS, Boehm CD, Higgs DR, Cutting GR. Single-tube multiplex-PCR screen for common deletional determinants of α-thalassemia. Blood. 2000;95(1):360–362.
  • Puehringer H, Najmabadi H, Law HY, Validation of a reverse-hybridization StripAssay for the simultaneous analysis of common α-thalassemia point mutations and deletions. Clin Chem Lab Med. 2007;45(5):605–610.
  • Dodé C, Krishnamoorthy R, Lamb L, Rochette J. Rapid analysis of –α3.7 thalassaemia and αααanti 3.7 triplication by enzymatic amplification analysis. Br J Haematol. 1992;83(1):105–111.
  • Harteveld CL, Voskamp A, Phylipsen M, Nine unknown rearrangements in 16p13.3 and 11p15.4 causing α- and β-thalassemia characterized by high resolution multiplex ligation-dependent probe amplification. J Med Genet. 2005;42(12):922–931.
  • Joly P, Lacan P, Garcia C, Couprie N, Francina A. Identification and molecular characterization of four new large deletions in the β-globin gene cluster. Blood Cells Mol Dis. 2009;43(1):53–57.
  • Kulozik AE, Bail S, Bellan-Koch A, The proximal element of the β globin locus control region is not functionally required in vivo. J Clin Invest. 1991;87(6):2142–2146.
  • Lee JA, Carvalho CMB, Lupski JR. A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. Cell. 2007;131(7):1235–1247.
  • Rugless MJ, Fisher CA, Old JM, A large deletion in the human α-globin cluster caused by a replication error is associated with an unexpectedly mild phenotype. Hum Mol Genet. 2008;17(19):3084–3093.
  • Koenig SC, Becirevic E, Hellberg MSC, Sickle cell disease caused by heterozygosity for Hb S and novel LCR deletion: report of two patients. Am J Hematol. 2009;84(9):603–606.
  • Rose C, Rossignol J, Lambilliotte A, A novel (εγδβ)0-thalassemia deletion associated with an α globin gene triplication leading to a severe transfusion dependant fetal thalassemic syndrome. Haematologica. 2009;94(4):593–594.
  • Joly P, Lacan P, Labalme A, A novel telomeric (approximately 285 kb) α-thalassaemia deletion leading to a phenotypically unsual Hb H disease. Haematologica. 2010;95(5):850–851.
  • Giambona A, Passarello C, Renda D, Maggio A. The significance of the Hemoglobin A2 value in screening for hemoglobinopathies. Clin Biochem. 2009;42(18):1786–1796.
  • Lacerra G, Scarano C, Lagona LF, Genotype-phenotype relationship of the δ-thalassemia and Hb A2 variants: observation of 52 genotypes. Hemoglobin. 2010;34(5):407–423.
  • Olivieri NF, Weatherall DJ. Clinical aspects of β-thalassemia and related disorders. In: Steinberg MH, Forget BG, Higgs DR, Weatherall DJ, eds. Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management. Cambridge: Cambridge University Press. 2009:357–416.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.