Hb Titusville alpha94(G1)Asp->Asn
         
CONTACT alpha1beta2 contact
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X does not separates from Hb A on paper at alkaline pH but moves as Hb S on starch gel and cellulose acetate at alkaline pH; Hb X separates from Hb A on citrate agar and acid pH
CHROMATOGRAPHY Hb X was isolated on a DEAE-Sephadex column
STRUCTURE STUDIES Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation GAC->AAC; alpha2 or alpha1
FUNCTIONAL STUDIES Increased oxygen affinity; decreased cooperativity; small Bohr effect
STABILITY About normal
OCCURRENCE Found in a Black female
OTHER INFORMATION Quantity in the heterozygote 35% (subject may have alpha-thal)
       
REFERENCES
1. Schneider, R.G., Atkins, R.J., Hosty, T.S., Tomlin, G., Casey, R., Lehmann, H., Lorkin, P.A., and Nagai, K.: Biochim. Biophys. Acta, 400:365, 1975.


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.