Publication Cover
Hemoglobin
international journal for hemoglobin research
Volume 37, 2013 - Issue 2
321
Views
7
CrossRef citations to date
0
Altmetric
Original Article

Association in Cis of the Mutations +20 (C>T) in the 5′ Untranslated Region and IVS-II-745 (C>G) on the β-Globin Gene

, , , , , , , , & show all
Pages 112-118 | Received 25 Jun 2012, Accepted 23 Oct 2012, Published online: 21 Feb 2013
 

Abstract

In the 5′ untranslated region (5′UTR), which is transcribed but not translated and is involved in posttranscriptional regulation of the gene promoting and stabilizing the mRNA translation, several mutations associated with mild β-thalassemia (β-thal) have been described. One of these, the +20 (C>T) mutation, is described in the HbVar database as a mutation responsible for β+-thal. In heterozygote cases, it gives rise to a phenotype of β-thal minor and β-thal intermediate (β-TI) when the mutation is associated with β+ IVS-II-745 (C>G). To clarify if this mutation is responsible for β+-thal, we studied nine cases where we found an association of the +20 and IVS-II-745 mutations.

All patients were carriers of four α genes. Three patients carried β-thal major (β-TM), two were compound heterozygotes for IVS-II-745 and codon 8 (–AA) or codon 39 (C>T), and the third was homozygous for IVS-II-745; all had the +20 mutation in the 5′UTR. The remaining patients showed the mutation IVS-II-745 associated with a replacement of C>T at nucleotide (nt) +20 of the 5′UTR. Contrary to reports in the HbVar database, the +20 mutation should be considered as an innocuous single nt polymorphism associated with the IVS-II-745 mutation in cis.

Log in via your institution

Log in to Taylor & Francis Online

PDF download + Online access

  • 48 hours access to article PDF & online version
  • Article PDF can be downloaded
  • Article PDF can be printed
USD 65.00 Add to cart

Issue Purchase

  • 30 days online access to complete issue
  • Article PDFs can be downloaded
  • Article PDFs can be printed
USD 1,628.00 Add to cart

* Local tax will be added as applicable

Related Research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.