Publication Cover
Hemoglobin
international journal for hemoglobin research
Volume 40, 2016 - Issue 5
166
Views
2
CrossRef citations to date
0
Altmetric
Short Communication

A Patient with β-Thalassemia Intermedia Secondary to Homozygosity for a Polyadenylation Signal Mutation (AATAAA > AATAGA) (HBB: C.*112A > G) on the β-Globin Gene

, , , &
Pages 359-360 | Received 10 Jun 2016, Accepted 06 Sep 2016, Published online: 08 Nov 2016

References

  • Higgs DR, Goodbourn SE, Lamb J, et al. Alpha-thalassaemia caused by a polyadenylation signal mutation. Nature. 1983;306(5941):398–400.
  • Weatherall DJ. Phenotype-genotype relationships in monogenic disease: lessons from the thalassaemias. Nat Rev Genet. 2001;2(4):245–255.
  • Losekoot M, Fodde R, Harteveld CL, et al. Homozygous beta + thalassaemia owing to a mutation in the cleavage-polyadenylation sequence of the human beta globin gene. J Med Genet. 1991;28(4):252–255.
  • Italia K, Sawant P, Surve R, et al. Variable haematological and clinical presentation of β-thalassemia carriers and homozygotes with the Poly A (T→C) mutation in the Indian population. Eur J Haematol. 2012;89(2):160–164.
  • Ng ISL, Ong JBK, Tan CL, Lay HY. Beta-thalassemia mutations in Singapore-a strategy for prenatal diagnosis. Hum Genet. 1994;94(4):385–388.

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.