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.
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Official URL: http://edoc.unibas.ch/dok/A6005691
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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) |
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| 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 |
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| Last Modified: | 24 May 2013 09:13 |
| Deposited On: | 26 Apr 2013 06:56 |
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