Rizzi, M; Zurbriggen, K; Schmid, M; Goede, J S; Nardi, M A; Schmugge, M; Speer, O (2011). A new α1-globin mutation, Hb Brugg [α20(B1)His→Gln]. Hemoglobin, 35(4):417-422.
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.
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.
| Item Type: | Journal Article, refereed, original work |
|---|---|
| Communities & Collections: | 04 Faculty of Medicine > University Hospital Zurich > Clinic for Oncology and Hematology
04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic 04 Faculty of Medicine > Center for Integrative Human Physiology |
| Dewey Decimal Classification: | 570 Life sciences; biology
610 Medicine & health |
| Scopus Subject Areas: | Health Sciences > Hematology
Life Sciences > Clinical Biochemistry Health Sciences > Genetics (clinical) Health Sciences > Biochemistry (medical) |
| Language: | English |
| Date: | 2011 |
| Deposited On: | 18 Nov 2011 08:10 |
| Last Modified: | 23 Jan 2022 19:33 |
| Publisher: | Informa Healthcare |
| ISSN: | 0363-0269 |
| OA Status: | Closed |
| Publisher DOI: | https://doi.org/10.3109/03630269.2011.594138 |
| PubMed ID: | 21797708 |
Rizzi, M