HB LES-ANDELYS [ALPHA-83(F4)LEU-]PRO] - A NEW MODERATELY UNSTABLE VARIANT

Hb Les Andelys [alpha 83(F4)Leu-->Pro] is a mildly unstable variant th at was found during glycated hemoglobin measurement in a French family . In this hemoglobin molecule the affected site, in the ct chain, and the amino acid substitution are identical to those of Hb Santa Ana, an unstable beta chain variant. The structural abnormality was demonstra ted by protein chemistry methods, involving, in addition to the classi cal techniques, a selective precipitation of the abnormal hemoglobin b y isopropanol and a mass spectrometry analysis of the alpha T-9 peptid e following carboxypeptidase digestion. DNA sequencing demonstrated th at the mutation was C (T) under bar G-->C (C) under bar G at codon 83 of the alpha 2 gene.