Publication Cover
Hemoglobin
international journal for hemoglobin research
Volume 41, 2017 - Issue 3
181
Views
8
CrossRef citations to date
0
Altmetric
Original Article

First Report of a Novel Deletion Due to εγδβ-Thalassemia in a Chinese Family

ORCID Icon, , , , , , , , & show all
Pages 175-179 | Received 14 May 2017, Accepted 24 Jul 2017, Published online: 27 Sep 2017

References

  • Rose C, Rossignol J, Lambilliotte A, et al. A novel (εγδβ)0-thalassemia deletion associated with an α-globin gene triplication leading to a severe transfusion dependent fetal thalassemic syndrome. Haematologica. 2009;94(4):593–594.
  • Thein SL. The molecular basis of β-thalassemia. Cold Spring Harb Perspect Med. 2013;3(5):a011700.
  • Verhovsek M, Shah NR, Wilcox I, et al. Severe fetal and neonatal hemolytic anemia due to a 198 kb deletion removing the complete β-globin gene cluster. Pediatr Blood Cancer. 2012;59:941–944.
  • Brantberg A, Eik-Nes SH, Roberts N, et al. Severe intrauterine anemia: a new form of εγγδβ thalassemia presenting in utero in a Norwegian family. Haematologica. 2009;94(8):1157–1159.
  • 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.
  • Game L, Bergounioux J, Close JP, et al. A novel deletion causing (εγδβ)0 thalassaemia in a Chilean family. Br J Haematol. 2003;123(1):154–159.
  • Shalev H, Landau D, Pissard S, et al. A εγδβ thalassemia presenting with pregnancy complications and severe neonatal anemia. Eur J Haematol. 2013;90(2):127–133.
  • Rooks H, Bergounioux J, Game L, et al. Heterogeneity of the εγδβ-thalassaemias: characterization of three novel English deletions. Br J Haematol. 2005;128(5):722–729.
  • Trent RJ, Williams BG, Kearney A, et al. Molecular and hematologic characterization of Scottish-Irish type (εγδβ)0 thalassemia. Blood. 1990;76(10):2132–2138.
  • Furuya C, Yamashiro Y, Hattori Y, et al. A novel εγδβ thalassemia of 1.4 Mb deletion found in a Japanese patient. Am J Hematol. 2008;83(1):84–86.
  • Zebisch A, Schulz E, Grosso M, et al. Identification of a novel variant of εγδβ thalassemia highlights limitations of next generation sequencing. Am J Hematol. 2015;90(3):E52–E53.
  • Shooter C, Rooks H, Thein SL, Clark B. Next generation sequencing identifies a novel rearrangement in the HBB cluster permitting to-the-base characterization. Hum Mutat. 2015;36(1):142–150.

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.