Hb J-Amiens beta17(A14)Lys->Asn
CONTACT External
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X moves to the position of Hb J on cellulose acetate at alkaline pH; Hb X moves with Hb A on citrate agar at pH 6.2; excellent separation by IEF
CHROMATOGRAPHY Hb X and Hb A can be separated by cation exchange HPLC
STRUCTURE STUDIES Tryptic digestion; fingerprinting; reversed phase HPLC; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation AAG->AAC or AAT at codon 17
FUNCTION STUDIES Normal oxygen affinity, cooperativity, and 2,3-DPG level
OCCURRENCE Found in a Spanish female and in a Japanese male
OTHER INFORMATION Quantity in the heterozygote 40-45%
1. Elion, J., Wajcman, H., Belkhodja-Dunda, O., Lapoumeroulie, C., Labie, D., Messerschmitt, J., Staal, A.M., and Desablens, B.: Nouv. Rev. Fr. d'Hematol., 21:347, 1979.
2. Harano, T., Harano, K., Kushida, Y., Ueda, S., Kawakami, H.: Hemoglobin, 14: 445, 1990.

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.