Hb Saint Mandé beta102(G4)Asn->Tyr
CONTACT Internal; heme and alpha1beta2 contacts
HEMATOLOGY Cyanosis in the heterozygote; normal
ELECTROPHORESIS Hb X and Hb A can be separated at alkaline pH; Hb X moves as Hb F; excellent separation by IEF
STRUCTURE STUDIES Tryptic digestion of AE-betaX chain; separation of peptides by fingerprinting and cation exchange chromatography; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation AAC->TAC at codon 102
FUNCTION STUDIES Decreased oxygen affinity
OCCURRENCE Found in a 26-year-old French male and his mother
OTHER INFORMATION Quantity in the heterozygote 38%
1. Arous, N., Braconnier, F., Thillet, J., Blouquit, Y., Galacteros, F., Chevrier, M., Bordahandy, C., and Rosa, J.: FEBS Lett., 126:114, 1981.

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.