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Hemoglobin
international journal for hemoglobin research
Volume 42, 2018 - Issue 3
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Short Communication

Compound Heterozygosity for Silent Cap +1570 (T>C) (HBB: c*96T>C), Codon 39 (C>T) (HBB: c.118C>T) and the Presence of αααanti–3.7/αα in Greece. A Case Presentation

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Pages 194-195 | Received 17 Apr 2018, Accepted 10 Jun 2018, Published online: 12 Sep 2018

References

  • Giardine B, Borg J, Viennas E, et al. Update of the HbVar database of human hemoglobin variants and thalassemia mutations. Nucleic Acid Res. 2014;42(Database issue):D1063–D1069 (http://globin.cse.psu.edu).
  • Divoky V, Baysal E, Oner R, et al. The T→C mutation at position +96 of the untranslated region 3′ to the terminating codon of the β-globin gene is a rare polymorphism that does not cause a β-thalassemia as previously ascribed. Hum Genet. 1994;93(1):77–78.
  • Boussiou M, Karababa P, Sinopoulou K, et al. The molecular heterogeneity of β thalassemia in Greece. Blood Cells Mol Dis. 2008;40(3):317–319.
  • Bilgen T, Canatan D, Arican Y, et al. The effect of HBB: c*+96 T>C (3′UTR +1570T>C) on mild β-thalassemia intermedia phenotype. Turk J Hematol. 2011;28(3):219–222.
  • Vinciguerra M, Passarello C, Cassara F, et al. Co-heredity of silent CAP +1570 T>C (HBB:c*96T>C) defect and severe β-thal mutation: a cause of mild β-thalassemia intermedia. Int J Lab Hematol. 2016;38(1):17–26.
  • Taher AT, Porter JB, Viprakasit V, et al. Deferasirox effectively reduces iron overload in non-transfusion-dependent thalassemia (NTDT) patients: 1-year extension results from the THALASSA study. Ann Hematol. 2013;92(11):1485–1493.

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