Hb Rush beta101(G3)Glu->Gln
         
CONTACT Internal; central cavity; alpha1beta2 contact
HEMATOLOGY Mild hemolytic anemia in the heterozygote (PCV 0.35-0.36 l/l)
ELECTROPHORESIS Hb X and Hb A separate at alkaline pH and at acidic pH; at alkaline pH two zones move between Hb A and Hb S
CHROMATOGRAPHY Not reported
STRUCTURE STUDIES Tryptic digestion of betaX chain; separation of peptides by fin-gerprinting; amino acid analysis
DNA ANALYSES Not reported; presumed mutation GAG->CAG at codon 101
FUNCTION STUDIES Normal
STABILITY Unstable; forms hybrid Hbs
OCCURRENCE Found in three individuals in three generations of a Black family in the USA
OTHER INFORMATION Quantity in the heterozygote 35%
       
REFERENCES
1. Adams, J.G., III, Winter, W.P., Tausk, K., and Heller, P.: Blood, 43:261, 1974.
2. Shih, D.T-b., Jones, R.T., Imai, K., and Tyuma, I.: J. Biol. Chem., 260:5919, 1985.


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.