Hb J-Lens beta13(A10)Ala->Asp
         
CONTACT External
HEMATOLOGY Probably normal in the heterozygote
ELECTROPHORESIS Hb X moves to the position of Hb J on cellulose acetate at alkaline pH
CHROMATOGRAPHY Not reported
STRUCTURE STUDIES Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis; Edman degradation
DNA ANALYSES Not reported; presumed mutation GCC->GAC at codon 13
FUNCTION STUDIES Not reported
STABILITY Normal
OCCURRENCE Found in a 2-year-old French child; no report of a family study
OTHER INFORMATION Quantity in the heterozygote ±50%
       
REFERENCES
1. Djoumessi, S., Rousseaux, J., and Dautrevaux, M.: FEBS Lett., 136:145, 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.