Hb Headington beta72(E16)Ser->Arg
CONTACT External
HEMATOLOGY Mild erythrocytosis in the proband who also had a (deltabeta)o-thal
ELECTROPHORESIS Hb X occupies the position of Hb S at alkaline pH; excellent separation by IEF
STRUCTURE STUDIES Not reported; identification was by DNA analysis
DNA ANALYSES An AGT->AGA mutation at codon 72
FUNCTION STUDIES Increase in oxygen affinity; slight decrease in cooperativity; Bohr effect normal
OCCURRENCE Found in an Asian Indian family
OTHER INFORMATION Occurred in combination with a (deltabeta)o-thal
1. Rochette, J., Barnetson, R., Kiger, L., Kister, J., Littlewood, T.J., Webster, R., Poyart, C., and Thein, S.L.: Br. J. Haematol., 86:118, 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.