Hb Aurora beta139(H17)Asn->Tyr
         
CONTACT Central cavity
HEMATOLOGY Mild erythrocytosis in the heterozygote (PCV 0.49 l/l)
ELECTROPHORESIS No separation by standard techniques at alkaline pH; Hb X occupies the position of Hb F on acid agar electrophoresis and on IEF
CHROMATOGRAPHY Not reported
STRUCTURE STUDIES Not reported
DNA ANALYSES An AAT->TAT mutation at codon 139
FUNCTION STUDIES Increased oxygen affinity of whole blood
STABILITY Normal
OCCURRENCE Found in a 73-year-old Dutch female living in Canada
OTHER INFORMATION Quantity of the variant estimated at ~50%; alpha-thal is absent
       
REFERENCES
1. Lafferty, J., Ali, M., Matthew, K., Eng, B., Patterson, M., and Waye, J.S.: Hemoglobin, 19:335, 1995.


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.