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Rapid Diagnosis of α-Thalassemia by Melting Curve Analysis

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1 Rapid Diagnosis of α-Thalassemia by Melting Curve Analysis
Thongperm Munkongdee, Phantip Vattanaviboon, Parichut Thummarati, Paijit Sewamart, Pranee Winichagoon, Suthat Fucharoen, Saovaros Svasti  The Journal of Molecular Diagnostics  Volume 12, Issue 3, Pages (May 2010) DOI: /jmoldx Copyright © 2010 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

2 Figure 1 Schematic representation of the α-globin gene cluster and relative positions of the seven primers used in the melting curve analysis. The black boxes indicate the extent of the α-thalassemia 1, −−SEA, and −−THAI deletions and α-thalassemia 2, −α3.7, and −α4.2 deletions. The Journal of Molecular Diagnostics  , DOI: ( /jmoldx ) Copyright © 2010 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

3 Figure 2 The melting curves of the amplified α-thalassemia and normal PCR products representing −−SEA deletions, −−THAI deletions, α2-globin fragment, and Ψζ-globin fragment. These amplicons were differentiated according to their characteristic Tm. The Journal of Molecular Diagnostics  , DOI: ( /jmoldx ) Copyright © 2010 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

4 Figure 3 Examples of the melting curve analysis of individuals with various α-globin genotypes. A: Two peaks of α2-globin and Ψζ-globin fragments from normal globin genotype. B: Three peaks of α2-globin, −−SEA, and Ψζ-globin from SEA α-thalassemia 1 trait. C: Three peaks of −−THAI, α2-globin, and Ψζ-globin from Thai α-thalassemia 1 trait. D: A single peak of −−SEA from Hb Bart's hydrops fetalis. E: A single peak of −α3.7 from homozygous α-thalassemia 2. F: Two peaks of −−SEA and Ψζ-globin from deletional Hb H disease. G: Two peaks of −−THAI and Ψζ-globin from deletional Hb H disease. The Journal of Molecular Diagnostics  , DOI: ( /jmoldx ) Copyright © 2010 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

5 Figure 4 Replicated melting curve analysis of SEA α-thalassemia 1 trait. The Journal of Molecular Diagnostics  , DOI: ( /jmoldx ) Copyright © 2010 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions


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