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
FUNCTION STUDIES		Not reported
STABILITY		Normal
OCCURRENCE		Found in a Sicilian female
OTHER INFORMATION		Quantity in the heterozygote 40%

REFERENCES
1.		Ricco, G., Pich, P.G., Mazza, U., Rossi, G., Ajmar, F., Arese, P., and Gallo, E.: FEBS Lett., 39:200, 1974.

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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.