Hb Seattle beta70(E14)Ala->Asp
CONTACT Heme contact
HEMATOLOGY Mild chronic hemolytic anemia; Heinz bodies after incubation with brilliant cresyl blue
ELECTROPHORESIS Hb X and Hb A separate at alkaline pH and by IEF; Hb X moves like Hb J; no separation at acidic pH
CHROMATOGRAPHY Hb X and Hb A separate by both cation and anion exchange HPLC (elution order: betaX, betaA, alpha)
STRUCTURE STUDIES Tryptic digestion; separation of peptides by fingerprinting or reversed phase HPLC or cation exchange chromatography; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation GCC->GAC at codon 70
FUNCTION STUDIES Decreased oxygen affinity, cooperativity, and Bohr effect
OCCURRENCE Found in a Caucasian family (USA) and in an Ukrainian family
OTHER INFORMATION Variant was wrongly identified as beta76(E20)Ala->Glu (Ref. 1); corrected (Ref. 3); quantity in the heterozygote 26-37%
1. Huehns, E.R., Hecht, F., Yoshida, A., Stamatoyannopoulos, G., Hartman, J., and Motulusky, A.G.: Blood, 36:209, 1970.
2. Stamatoyannopoulos, G., Parer, J.T., and Finch, C.A.: N. Engl. J. Med., 281:915, 1969.
3. Anderson, N.L., Perutz, M.F., and Stamatoyannopoulos, G.: Nature, 243:274, 1973.
4. Kurachi, S., Hermodson, M., Hornung, S., and Stamatoyannopoulos, G.: Nature, 243:275, 1973.
5. Chow, E.Y., Haley, L.P., Krikler, S.H., and Wadsworth, L.D.: Hemoglobin, 18: 231, 1994.

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.