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Hehemoglobin Pierre-Bénite [β90(F6)Glu→Asp], a new High Affinity Variant Found in a French Family
- Source :
- Hemoglobin. 12:171-177
- Publication Year :
- 1988
- Publisher :
- Informa UK Limited, 1988.
-
Abstract
- Hemoglobin Pierre-Bénite [beta 90(F6)Glu---Asp] is a new high affinity variant (P50 = 21.5 mm Hg), with normal heme-heme interaction, found in a French family. It was difficult to detect by conventional electrophoretic methods. However, the high performance liquid chromatography profile of its tryptic peptides contained an additional peak. Amino acid analysis of the corresponding peptide and determination of its sequence allowed us to identify the mutation. No instability was found. Mutations previously recorded in position 90 of the beta-chain display a positive charge shift and a reduced affinity for oxygen, whereas Hb Pierre-Bénite shows no charge shift and increased affinity for oxygen.
- Subjects :
- Adult
Male
P50
Stereochemistry
Hemoglobins, Abnormal
Molecular Sequence Data
Clinical Biochemistry
chemistry.chemical_element
Polycythemia
medicine.disease_cause
High-performance liquid chromatography
Oxygen
Amino acid analysis
medicine
Humans
Amino Acid Sequence
Chromatography, High Pressure Liquid
Genetics (clinical)
Mutation
Chromatography
Chemistry
Biochemistry (medical)
Tryptic peptide
Hematology
Globins
Hemoglobinopathies
Electrophoresis
Hemoglobin
Subjects
Details
- ISSN :
- 1532432X and 03630269
- Volume :
- 12
- Database :
- OpenAIRE
- Journal :
- Hemoglobin
- Accession number :
- edsair.doi.dedup.....ba7589bdf7afd13e0a4b05d6b12f0b87