Publication Cover
Hemoglobin
international journal for hemoglobin research
Volume 19, 1995 - Issue 3-4
13
Views
12
CrossRef citations to date
0
Altmetric
Original Article

A Novel Frameshift Mutation Causing β-Thalassemia in a Sikh

&
Pages 183-189 | Received 18 Jul 1994, Accepted 07 Mar 1995, Published online: 07 Jul 2009
 

Abstract

During our survey of β-thalassemia mutations among residents of the United Arab Emirates, we came across a Sikh family who had two new β-thalassemia mutations. The father had a frameshift mutation at codons 47/48 (+ATCT), and the mother another frameshift mutation at codons 57/58 (+C). The offspring of this family were two daughters with β-thalassemia trait and a boy with a compound heterozygosity. The boy, who was transfusion-dependent from the age of 7 months, had a successful bone marrow transplant from his eldest sister at the age of 13 months.

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.