Hb Thionville alpha1(NA1)Val->Glu; amino terminus extended with a
methionyl residue: (-1)Met-(+1)Glu-(+2)Leu-Ser-
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X moves faster than Hb A in IEF
STRUCTURE STUDIES Tryptic digestion of the alpha chain; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation GTG->GAG at codon alpha1 (alpha2 or alpha1); this prevents the removal of the initiator methionine
STABILITY Not reported
OCCURRENCE Found in a 78-year-old diabetic patient
OTHER INFORMATION Quantity in the heterozygote 21%
1. Vasseur, C., Guillemin, C., Galacteros, F., and Wajcman, H.: Blood, 76:78a (Suppl. 1), 1990.

This material is from the book A Syllabus of Human Hemoglobin Variants (1996) by Titus H.J. Huisman, Marianne F.H. Carver, and Georgi D. Efremov, published by The Sickle Cell Anemia Foundation in Augusta, GA, USA. Copyright © 1996 by Titus H.J. Huisman. All rights reserved. Neither this work nor any part may be reproduced or transmitted in any form or by any means, electronic or mechanical, microfilming and recording, or by any information storage and retrieval systems, without written permission.