edoc

A new stable alpha chain variant : Hb Basel [alpha14(A12)Trp--<Leu (alpha1)]

Hergersberg, Martin and Brunner-Agten, Saskia and Kühne, Thomas and Paulussen, Michael and Huber, Andreas R.. (2010) A new stable alpha chain variant : Hb Basel [alpha14(A12)Trp--<Leu (alpha1)]. Hemoglobin, Vol. 34, H. 3. pp. 327-331.

Full text not available from this repository.

Official URL: http://edoc.unibas.ch/dok/A6005691

Downloads: Statistics Overview

Abstract

We describe a heterozygosity for a new missense mutation on the alpha1-globin gene of an 18-year-old woman of Portuguese ancestry with severe hypochromic anemia and iron deficiency. Hemoglobin (Hb) analysis by high performance liquid chromatography (HPLC) found a prominent peak constituting about 12% of total Hb. Sequencing of the globin genes of the index patient found the mutation alpha14(A12)Trp--<Leu (alpha1), HBA1:c.44G>T. We identified the same mutation in blood and DNA of the mother, which provides evidence that the variant is stable and does not have direct pathophysiological or hematological consequences.
Faculties and Departments:03 Faculty of Medicine > Bereich Kinder- und Jugendheilkunde (Klinik) > Kinder- und Jugendheilkunde (UKBB) > Pädiatrische Hämatologie und Onkologie (von der Weid)
03 Faculty of Medicine > Departement Klinische Forschung > Bereich Kinder- und Jugendheilkunde (Klinik) > Kinder- und Jugendheilkunde (UKBB) > Pädiatrische Hämatologie und Onkologie (von der Weid)
UniBasel Contributors:Kühne, Thomas
Item Type:Article, refereed
Article Subtype:Research Article
Publisher:Informa Healthcare
ISSN:1532-432X
Note:Publication type according to Uni Basel Research Database: Journal article
Related URLs:
Identification Number:
Last Modified:24 May 2013 09:13
Deposited On:26 Apr 2013 06:56

Repository Staff Only: item control page