Hb Les Andelys [α83(F4)Leu→Pro]: A New Moderately Unstable Variant

• Published in: Hemoglobin Vol. 22; no. 2; pp. 129 - 140
• Main Authors: Wajcman, H., Promé, D., Préhu, C., Déon, C., Riou, J., Bouanga, J. C., Papassotiriou, I., Lahary, A., Galactéros, And F.
• Format: Journal Article
• Language: English
• Published: England Informa UK Ltd 01-01-1998; Taylor & Francis
• Subjects: Amino Acid Sequence; Blood Protein Electrophoresis; Child; Chromatography, High Pressure Liquid; Chromatography, Ion Exchange; Codon - genetics; Diabetes Mellitus, Type 1 - blood; DNA Mutational Analysis; Female; Globins - genetics; Glycated Hemoglobin A - analysis; Hemoglobins, Abnormal - chemistry; Hemoglobins, Abnormal - genetics; Hemoglobins, Abnormal - isolation & purification; Humans; Isoelectric Focusing; Molecular Sequence Data; Point Mutation; Polymerase Chain Reaction; Protein Denaturation; Sequence Analysis, DNA
• ISSN: 0363-0269; 1532-432X
• DOI: 10.3109/03630269809092137

Hb Les Andelys [α83(F4)Leu→ Proj is a mildiy unstable variant that was found during glycated hemoglobin measurement in a French family. in this hemoglobin molecule the affected site, in the α chain, and the amino acid substitution are identical to those of Hb Santa Ana, an unstable β chain variant. the structural abnormality was demonstrated by protein chemistry methods, involving, in addition to the classical techniques, a selective precipitation of the abnormal hemoglobin by isopropanol and a mass spectrometry analysis of the αT-9 peptide following carboxypeptidase digestion. DNA sequencing demonstrated that the mutation was CTG→ CCG at codon 83 of the α2 gene.