Hb Brigham beta100(G2)Pro->Leu
CONTACT Internal; central cavity
HEMATOLOGY Erythrocytosis in the heterozygote (PCV 0.43-0.59 l/l)
ELECTROPHORESIS Hb X and Hb A did not separate with standard methodology
STRUCTURE STUDIES Tryptic digestion of a mixture of AE-betaX+AE-betaA chains; separation of peptides by fingerprinting; amino acid analysis
DNA ANALYSES Not reported; presumed mutation CCT->CTT at codon 100
FUNCTION STUDIES Increased oxygen affinity; Bohr and 2,3-DPG effects normal
OCCURRENCE Found in 20 members in four generations of one family
OTHER INFORMATION Quantity in the heterozygote not determined
1. Lokich, J.J., Moloney, W.C., Bunn, H.F., Bruckheimer, S.M., and Ranney, H.M.: J. Clin. Invest., 52:2060, 1973.

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.