| Literature DB >> 21797708 |
Mattia Rizzi1, Karin Zurbriggen, Marlis Schmid, Jeroen S Goede, Michael A Nardi, Markus Schmugge, Oliver Speer.
Abstract
A 2½-year-old male child and a 23-year-old woman with no clinical symptoms were investigated during routine consultations. Cation exchange high performance liquid chromatography (HPLC) revealed an additional peak eluting before Hb A. DNA sequencing showed a novel heterozygous mutation at codon 20 of the α1-globin gene. The hemoglobin (Hb) variant was named Hb Brugg. Analysis of oxygen affinity Hb and Hb stability did not show any changes compared to normal Hb constellation.Entities:
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Year: 2011 PMID： 21797708 DOI： 10.3109/03630269.2011.594138
Source DB: PubMed Journal: Hemoglobin ISSN： 0363-0269 Impact factor: 0.849