Hb J-Antakya beta65(E9)Lys->Met
NOTE: This variant was erroneously identified as beta127(H5)Gln->Glu (Altay, C., Altinoz, N., Wilson, J.B., Bolch, K.C., and Huisman, T.H.J.: Biochim. Biophys. Acta, 434:1, 1976); a variant with this substitution has been observed in a Spanish family and is known as Hb Complutense
CONTACT External
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X and Hb A separate at alkaline pH (Hb X is faster than Hb A); no separation at acidic pH
CHROMATOGRAPHY Hb X and Hb A can be separated by cation and anion exchange chromatography
STRUCTURE STUDIES Tryptic digestion of betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation AAG->ATG at codon 65
OCCURRENCE Found in members of a family from Southern Turkey
OTHER INFORMATION Quantity in the heterozygote 41%
1. Huisman, T.H.J., Wilson, J.B., Kutlar, A., Yang, K-G., Chen, S-S., Webber, B.B., Altay, C., and Villegas Martinez, A.: Biochim. Biophys. Acta, 871:229, 1986.

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.