Publication Cover
Hemoglobin
international journal for hemoglobin research
Volume 31, 2007 - Issue 2
206
Views
11
CrossRef citations to date
0
Altmetric
Original

Three New β-Globin Gene Promoter Mutations Identified Through Newborn Screening

, , , , , & show all
Pages 129-134 | Received 07 Jul 2006, Accepted 19 Oct 2006, Published online: 07 Jul 2009
 

Abstract

We report three new β-globin gene promoter mutations identified in newborns with hemoglobin (Hb) profiles consistent with Hb S/β+-thalassemia (thal) (Hbs FSA). All three mutations are in close proximity to the conserved ATAA sequence located at positions −31 to −28 relative to the mRNA Cap site. Two cases involved single base substitutions at positions −25 (G→C) and −32 (C→T). The remaining case involved the deletion of two bases (−AA) at positions −27 and −26.

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.