A new α1-globin mutation, Hb Brugg [α20(B1)His→Gln].

Détails

ID Serval
serval:BIB_CDD02090B2F8
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
A new α1-globin mutation, Hb Brugg [α20(B1)His→Gln].
Périodique
Hemoglobin
Auteur(s)
Rizzi M., Zurbriggen K., Schmid M., Goede J.S., Nardi M.A., Schmugge M., Speer O.
ISSN
1532-432X (Electronic)
ISSN-L
0363-0269
Statut éditorial
Publié
Date de publication
2011
Peer-reviewed
Oui
Volume
35
Numéro
4
Pages
417-422
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
Publication Status: ppublish
Résumé
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.
Mots-clé
Binding, Competitive, Child, Preschool, Chromatography, High Pressure Liquid, DNA Mutational Analysis, Female, Hemoglobins, Abnormal/genetics, Hemoglobins, Abnormal/metabolism, Heterozygote, Humans, Male, Mutation, Missense, Oxygen/metabolism, Protein Binding, Young Adult, alpha-Globins/genetics, alpha-Globins/metabolism
Pubmed
Web of science
Création de la notice
08/03/2021 12:03
Dernière modification de la notice
13/03/2021 7:26
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