Publication Cover
Hemoglobin
international journal for hemoglobin research
Volume 42, 2018 - Issue 4
84
Views
5
CrossRef citations to date
0
Altmetric
Short Communication

First Identification of the 3.5 kb Deletion (NC_000011.10: g.5224302-5227791del3490bp) on the β-Globin Gene Cluster in a Chinese Family

, , , , , , , & show all
Pages 272-275 | Received 24 Jun 2018, Accepted 15 Sep 2018, Published online: 07 Jan 2019

References

  • Olivieri NF. The β-thalassemias. N Engl J Med. 1999;341(2):99–109.
  • Modell B, Darlison M. Global epidemiology of haemoglobin disorders and derived service indicators. Bull World Health Organ. 2008;2008(6):480–487.
  • Riewpaiboon A, Nuchprayoon I, Torcharus K, et al. Economic burden of β-thalassemia/Hb E and β-thalassemia major in Thai children. BMC Res Notes. 2010;3:29.
  • Edison ES, Venkatesan RS, Govindanattar SD, et al. A novel 26 bp deletion [HBB: c.20_45del26bp] in exon 1 of the β-globin gene causing β-thalassemia major. Hemoglobin. 2012;36(1):98–102.
  • Giardine B, Borg J, Viennas E, et al. Updates of the HbVar database of human hemoglobin variants and thalassemia mutations. Nucl Acids Res. 2014;42(D1):D1063–D1069.
  • Mager DL, Henthorn PS, Smithies O. A Chinese Gγ(Aγδβ)0 thalassemia deletion: comparison to other deletions in the human β-globin gene cluster and sequence analysis of the breakpoints. Nucl Acids Res. 1985;13(18):6559–6575.
  • Cai WJ, Li J, Xie XM, et al. Screening for common β-globin gene cluster deletions in Chinese individuals with increased hemoglobin F. Int J Lab Hematol. 2015;37(6):752–757.
  • Zhang XQ, Zhang JW. The 3′ breakpoint of the Yunnanese (Aγδβ)0-thalassemia deletion lies in an L1 family sequence: implications for the mechanism of deletion and the reactivation of the Gγ-globin gene. Hum Genet. 1998;103(1):90–95.
  • Zeng YT, Huang SZ, Chen B, et al. Hereditary persistence of fetal hemoglobin or (δβ)0-thalassemia: three types observed in South-Chinese families. Blood. 1985;66(6):1430–1435.
  • He S, Li DM, Lai YL, et al. Prenatal diagnosis of β-thalassemia in Guangzi Zhuang Autonomous Region, China. Arch Gynecol Obstet. 2014;289(1):61–65.
  • Lynch JR, Brown JM, Best S, et al. Characterization of the breakpoint of a 3.5-kb deletion of the β-globin gene. Genomics. 1991;10(2):509–511.
  • Sanguansermsri T, Pape M, Laig M, et al. β0-Thalassemia in a Thai family is caused by a 3.4 kb deletion including the entire β-globin gene. Hemoglobin 1990;14(2):157–168.
  • Tritipsombut J, Phylipsen M, Viprakasit V, et al. A single-tube multiplex gap-polymerase chain reaction for the detection of eight β-globin gene cluster deletions common in Southeast Asia. Hemoglobin. 2012;36(6):571–580.
  • Weatherall DJ, Clegg JB. The Thalassaemia Syndromes, 4th ed. Oxford (Oxfordshire, UK): Blackwell Science Ltd., 2001.
  • Thein SL, Hesketh C, Brown JM, et al. Molecular characterization of a high A2 β-thalassemia by direct sequencing of single strand enriched amplified genomic DNA. Blood. 1989;73(4):924–930.

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.