Publication Cover
Hemoglobin
international journal for hemoglobin research
Volume 36, 2012 - Issue 2
157
Views
8
CrossRef citations to date
0
Altmetric
Short Communications

Identification of a Novel Mutation in the β-Globin Gene 3′ Untranslated Region [+1,506 (A>C)] in a Japanese Male with a Heterozygous β-Thalassemia Phenotype

, , , , , , & show all
Pages 170-176 | Received 18 Jun 2011, Accepted 12 Aug 2011, Published online: 04 Jan 2012
 

Abstract

β-Thalassemia (β-thal) is characterized by the absent or reduced production of β-globin chains. The precise molecular lesion that causes decreased β-globin synthesis in β+-thal is difficult to predict when mutations occur in the locus control region (LCR), the promoter, the introns or 3′ untranslated regions (3′UTRs). Among them, the role of the 3′UTR of β-globin gene in mRNA stability is poorly understood, mainly due to very few cases that have mutations in this region. So far, only three mutations have been reported in the 3′UTR of β-globin gene. Although, it is speculated that some of these reported mutations could be associated with mRNA stability, the precise molecular basis still remains unclear. We report here a novel mutation in the β-globin gene 3′UTR [+1,506 (A>C)] in a 31-year-old Japanese male with hematological parameters suggestive of heterozygous β-thal. Further functional studies on this novel mutation reported here, may help in understanding of the regulation and expression of the β-globin gene and its products.

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.