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Hemoglobin
international journal for hemoglobin research
Volume 34, 2010 - Issue 4
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Original Article

Codon 24 (TAT>TAG) and Codon 32 (ATG>AGG) (Hb Rotterdam): Two Novel α2 Gene Mutations Associated with Mild α-Thalassemia Found in the Same Family After Newborn Screening

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Pages 354-365 | Received 18 Jan 2010, Accepted 20 Feb 2010, Published online: 19 Jul 2010

REFERENCES

  • Giordano PC. Starting neonatal screening for haemoglobinopathies in The Netherlands. J Clin Pathol. 2009;62(1):18–21.
  • Giordano PC. Toward state of the art neonatal screening for secondary and primary prevention of the hemoglobinopathies in the Netherlands. Validation report 2006. ISBN 90-807039-2-3.
  • Giordano PC. Prospective and retrospective primary prevention of hemoglobinopathies in multiethnic societies. Clin Biochem. 2009; Epub ahead of print.
  • Mantikou E, Arkesteijn SG, van Beckhoven JM, Kerkhoffs J-L, Harteveld CL, Giordano PC. A brief review on newborn screening methods for hemoglobinopathies and preliminary results selecting β-thalassemia carriers at birth by quantitative estimation of the Hb A fraction. J Clin Biochem. 2009; Epub ahead of print.
  • Zorai A, Harteveld CL, Bakir A, Molecular spectrum of α-thalassemia in Tunisia: epidemiology and detection at birth. Hemoglobin. 2002;26(4):353–362.
  • Harteveld CL, Voskamp A, Phylipsen M, Nine unknown rearrangements in 16p13.3 and 11p15.4 causing α- and β-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification. J Med Genet. 2005;42(12):922–931.
  • Van Delft P, Lenters E, Bakker-Verweij M, Evaluating five dedicated automatic devices for haemoglobinopathy diagnostics in multi-ethnic populations. Int J Lab Hematol. 2009;31(5):484–495.
  • Kaufmann JO, Harteveld CL, Bakker-Verweij M, Hb Den Haag [β45(CD4)Phe→Tyr. A new hemoglobin variant observed during early pregnancy diagnostics. Hemoglobin. 2009;34(1)37–44.
  • Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 1988;16(3):1215.
  • Liu YT, Old JM, Miles K, Fisher CA, Weatherall DJ, Clegg JB. Rapid detection of α-thalassaemia deletions and α-globin gene triplication by multiplex polymerase chain reactions. Br J Haematol. 2000;108(2):295–299.
  • Pertea M, Lin X, Salzberg SL. GeneSplicer: a new computational method for splice site prediction. Nucleic Acids Res. 2001;29(5):1185–1190.
  • Yeo B, Burge CB. Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals. J Comput Biol. 2004;11(2-3):377–394.
  • Zhang MA. Statistical features of human exons and their flanking regions. Hum Mol Genet. 1998;7(5):919–932.
  • Harteveld CL, Vervloet M, Zweegman S, Hb Amsterdam [α32(B13)Met→Ile (α2)]: a new unstable variant associated with an α-thalassemia phenotype and a new African polymorphism. Hemoglobin. 2005;29(4):257–262.
  • Pereira FJ, do Céu Silva M, Picanço I, Human α2-globin nonsense-mediated mRNA decay induced by a novel α-thalassaemia frameshift mutation at codon 22. Br J Haematol. 2006;133(1):98–102.
  • Phylipsen M, Prior J, Lim E, HBA1 c.86C>T p.Ala29Val (codon 28, GCC>GTC) and: HBA1c.98T>A p.Met33Lys (codon 32, ATG>AAG). Two new α-globin gene point mutations associated with microcytic hypochromic parameters. Hemoglobin. 2010; in press.
  • Yavarian M, Karimi M, Zorai A, Harteveld CL, Giordano PC. Molecular basis of Hb H disease in Southwest Iran. Hemoglobin. 2005;29(1):43–50.
  • Harteveld CL, Yavarian M, Zorai A, Quakkelaar ED, van Delft P, Giordano PC. Molecular spectrum of α-thalassemia in the Iranian population of Hormozgan: three novel point mutation defects. Am J Hematol. 2003;74(2):99–103.
  • Rugless MJ, Fisher CA, Stephens AD, Amos RJ, Mohammed T, Old JM. Hb Bart's in cord blood: an accurate indicator of α-thalassemia. Hemoglobin. 2006;30(1):57–62.
  • Eng B, Patterson M, Walker L, Three new α-thalassemia point mutations ascertained through newborn screening. Hemoglobin. 2006;30(2):149–153.
  • Galanello R, Maccioni L, Ruggeri R, Perseu L, Cao A. α thalassaemia in Sardinian newborns. Br J Haematol. 1984;58(2):361–368.
  • Wajcman H, Traeger-Synodinos J, Papassotiriou I, Unstable and thalassemic α chain hemoglobin variants: a cause of Hb H disease and thalassemia intermedia. Hemoglobin. 2008;32(4):327–349.
  • Toyokuni S. Role of iron in carcinogenesis: cancer as a ferrotoxic disease. Cancer Sci. 2009;100(1):9–16.

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