Hb Sunshine Seth alpha94(G1)Asp->His
         
CONTACT alpha1beta2 contact
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X moves slightly cathodal to Hb S on cellulose acetate; Hb X moves midway between Hb S and Hb C on starch gel at alkaline pH; excellent separation by IEF
CHROMATOGRAPHY Hb A and Hb X can be isolated by cation and anion exchange chromatography
STRUCTURE STUDIES Tryptic digestion; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing
DNA ANALYSES A GAC->CAC mutation at codon 94 of the alpha2 gene (Ref. 2)
FUNCTIONAL STUDIES Not reported
STABILITY Mildly unstable
OCCURRENCE Found in a few Caucasian families
OTHER INFORMATION Quantity in heterozygotes 20-25%
       
REFERENCES
1. Schroeder, W.A., Shelton, J.B., Shelton, J.R., and Powars, D.: Hemoglobin, 3:145, 1979.
2. Molchanova, T.P., Pobedimskaya, D.D., and Huisman, T.H.J.: Br. J. Haematol., 88:300, 1994.


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.