Hb Aalborg beta74(E18)Gly->Arg
         
CONTACT Internal
HEMATOLOGY Mild anemia in the heterozygote; Heinz bodies
ELECTROPHORESIS Hb X and Hb A separate at alkaline pH; Hb X has a mobility between that of Hb F and Hb S
CHROMATOGRAPHY Not reported
STRUCTURE STUDIES Tryptic digestion of betaX chain; peptides were characterized by FAB mass spectrometry
DNA ANALYSES Not reported; presumed mutation GGC->CGC at codon 74
FUNCTION STUDIES Not reported
STABILITY Mildly unstable
OCCURRENCE Found in a 7-year-old girl and her father
OTHER INFORMATION Quantity in the heterozygote ~21%
       
REFERENCES
1. Williamson, D., Nutkins, J., Rosthoj, S., Brennan, S.O., Williams, D.H., and Carrell, R.W.: Hemoglobin, 14:137, 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.