HB Les Andelys [alpha83(F4)LEU-->PRO]: a new moderately unstable variant.
Hb Les Andelys [alpha83(F4)Leu-->Pro] is a mildly unstable variant that was found during glycated hemoglobin measurement in a French family. In this hemoglobin molecule the affected site, in the alpha chain, and the amino acid substitution are identical to those of Hb Santa Ana, an unstable beta 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 alphaT-9 peptide following carboxypeptidase digestion. DNA sequencing demonstrated that the mutation was CTG-->CCG at codon 83 of the alpha2 gene.
Wajcman
H
H
Department of Biochemistry and INSERM U91, Hôpital Henri Mondor, Créteil, France.
Promé
D
D
Préhu
C
C
Déon
C
C
Riou
J
J
Bouanga
J C
JC
Papassotiriou
I
I
Lahary
A
A
Galactéros
F
F
D000595:Amino Acid Sequence; D001797:Blood Protein Electrophoresis; D002648:Child; D002851:Chromatography, High Pressure Liquid; D002852:Chromatography, Ion Exchange; D003062:Codon / Q000235:genetics; D004252:DNA Mutational Analysis; D003922:Diabetes Mellitus, Type 1 / Q000097:blood; D005260:Female; D005914:Globins / Q000235:genetics*; D006442:Glycated Hemoglobin / Q000032:analysis; D006455:Hemoglobins, Abnormal / Q000737:chemistry / Q000235:genetics / Q000302:isolation & purification*; D006801:Humans; D007525:Isoelectric Focusing; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011489:Protein Denaturation; D017422:Sequence Analysis, DNA
D003062:Codon; D005914:Globins; D006442:Glycated Hemoglobin; D006455:Hemoglobins, Abnormal; C112847:hemoglobin Les Andelys