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Hemoglobin
international journal for hemoglobin research
Volume 44, 2020 - Issue 3
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Short Communications

A Woman with Missing Hb A2 Due to a Novel (εγ)δβ0-Thalassemia and a Novel δ-Globin Variant Hb A2-Gebenstorf (HBD: c.209G>A)

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Pages 214-217 | Received 27 Apr 2020, Accepted 15 May 2020, Published online: 01 Jul 2020

References

  • Stamatoyannopoulos G, Grosveld F. Hemoglobin switching. In: Stamatoyannopoulos G, Majerus P, Permutter R, Varmus H, Editors. The molecular basis of blood diseases. 3rd ed. Philadelphia (PA): W.B. Saunders Company; 2001. p. 135–165.
  • Grosveld F, van Assendelft GB, Greaves DR, et al. Position-independent high-level expression of the human β-globin gene in transgenic mice. Cell. 1987;51(6):975–985.
  • Steinberg MH, Adams JG 3rd. Hemoglobin A2: origin, evolution, and aftermath. Blood. 1991;78(9):2165–2177.
  • Brancaleoni V, Di Pierro E, Motta I, et al. Laboratory diagnosis of thalassemia. Int Jnl Lab Hem. 2016;38(Suppl 1):32–40.
  • Traeger-Synodinos J, Harteveld CL, Old JM, et al. EMQN Best Practice Guidelines for molecular and haematology methods for carrier identification and prenatal diagnosis of the haemoglobinopathies. Eur J Hum Genet. 2015;23(4):560.
  • Bissé E, Zorn N, Eigel A, et al. Hemoglobin Rambam (β69[E13]Gly→Asp), a pitfall in the assessment of diabetic control: characterization by electrospray mass spectrometry and HPLC. Clin Chem. 1998;44(10):2172–2177.
  • Liu N, Hargreaves VV, Zhu Q, et al. Direct promoter repression by BCL11A controls the fetal to adult hemoglobin switch. Cell. 2018;173(2):430–442.
  • Harteveld CL, Voskamp A, Phylipsen M, et al. 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.
  • Harteveld CL, Osborne CS, Peters M, et al. Novel 112 kb (εGγAγ)δβ-thalassaemia deletion in a Dutch family. Br J Haematol. 2003;122(5):855–858.
  • Von Känel T, Röthlisberger B, Schanz U, et al. A Swiss (εγδβ)-thalassemia patient with a novel 3-Mb deletion associated with mild mental impairment. Am J Hematol. 2013;88(2):158–159.

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