Hb Connecticut beta21(B3)Asp->Gly
         
CONTACT External
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X and Hb A separate at alkaline pH; Hb X moves like Hb S
CHROMATOGRAPHY Hb X was isolated on a DEAE-Sephadex column
STRUCTURE STUDIES Tryptic digestion; fingerprinting; cation exchange chromatography; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation GAT->GGT at codon 21
FUNCTION STUDIES Decreased oxygen affinity; normal cooperativity and Bohr effect; slight decrease in the effect of allosteric effectors on the oxygen equilibrium properties of the variant
STABILITY Normal
OCCURRENCE Found in members of a family of Polish origin living in the United States
OTHER INFORMATION Quantity in the heterozygote 39-43%
       
REFERENCES
1. Moo-Penn, W.F., McPhedran, P., Bobrow, S., Johnson, M.H., Jue, D.L., and Olsen, K.W.: Am. J. Hematol., 11:137, 1981.


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.