Hb Potomac beta101(G3)Glu->Asp
         
CONTACT Internal; central cavity; alpha1beta2 contact
HEMATOLOGY Erythrocytosis in the heterozygote (PCV 0.55 l/l)
ELECTROPHORESIS No separation of Hb X and Hb A by standard procedures
CHROMATOGRAPHY No separation obtained on DEAE-Sephadex or Bio-Rex 70 chromatography
STRUCTURE STUDIES Tryptic digestion of a mixture of betaX+betaA chains; separation of the peptides by cation exchange chromatography; amino acid analysis
DNA ANALYSES Not reported; presumed mutation GAG->GAC or GAT at codon 101
FUNCTION STUDIES Increased oxygen affinity; normal 2,3-DPG, Bohr and IHP effects
STABILITY Normal
OCCURRENCE Found in nine members of a Caucasian family and in an unrelated Caucasian female
OTHER INFORMATION Quantity in the heterozygote not provided
       
REFERENCES
1. Charache, S., Jacobson, R., Brimhall, B., Murphy, E.A., Hathaway, P., Winslow, R., Jones, R., Rath, C., and Simkovich, J.: Blood, 51:331, 1978.
2. Rubin, R.N., Ballas, S.K., Burka, E.R., Adachi, K., Asakura, T., and Schwartz, E.: Hemoglobin, 2:447, 1978.


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.