Hb St. Francis beta121(GH4)Glu->Gly
         
CONTACT External
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X and Hb A separate at alkaline pH; Hb X moves like Hb S or Hb D-Los Angeles
CHROMATOGRAPHY Not reported
STRUCTURE STUDIES Tryptic digestion of AE-betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis; sequence analysis
DNA ANALYSES Not reported; presumed mutation GAA->GGA at codon 121
FUNCTION STUDIES Normal
STABILITY Normal
OCCURRENCE Found in a 60-year-old Caucasian female
OTHER INFORMATION Quantity in the heterozygote 39%
       
REFERENCES
1. Abourzik, N.N., Conlon, M., Zordon, G., Hine, T.K., Johnson, M.H., Jue, D.L., and Moo-Penn, W.F.: Hemoglobin, 15:115, 1991.


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.