Hb J-Sicilia beta65(E9)Lys->Asn
CONTACT External
HEMATOLOGY Slight anemia in the heterozygote; anemia likely unrelated to the presence of the variant
ELECTROPHORESIS Hb X and Hb A separate at alkaline pH; Hb X moves faster than Hb A
CHROMATOGRAPHY Hb X was isolated by DEAE-Sephadex chromatography
STRUCTURE STUDIES Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis; carboxypeptidase B
DNA ANALYSES Not reported; presumed mutation AAG->AAC or AAT at codon 65
OCCURRENCE Found in a Sicilian female
OTHER INFORMATION Quantity in the heterozygote 40%
1. Ricco, G., Pich, P.G., Mazza, U., Rossi, G., Ajmar, F., Arese, P., and Gallo, E.: FEBS Lett., 39:200, 1974.

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.