Hb J-Lome	beta59(E3)Lys->Asn

CONTACT		External
HEMATOLOGY		Normal in the heterozygote
ELECTROPHORESIS		Hb X and Hb A separate by standard techniques at alkaline pH and by IEF; Hb X moves faster than Hb A
CHROMATOGRAPHY		Hb X was isolated on a DEAE-Sephadex column
STRUCTURE STUDIES		Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis; CNBr; sequence by sequenator
DNA ANALYSES		Not reported; presumed mutation AAG->AAC or AAT at codon 59
FUNCTION STUDIES		Normal
STABILITY		About normal
OCCURRENCE		Found in a family living in Lome, Togo
OTHER INFORMATION		Quantity in heterozygotes ~50%; also found in association with HPFH

REFERENCES
1.		Wajcman, H., Amegnizin, K.P.E., Belkhodja, O., and Labie, D.: FEBS Lett., 84: 372, 1977.
2.		Amegnizin, K.P.E., Pagnier, J., Wajcman, H., Lapoumeroulie, C., and Labie, D.: Hemoglobin, 3:87, 1979.
3.		Prior, J.F., Raven, J.L., Wilson, J.B., Kutlar, A., Kutlar, F., and Huisman, T.H.J.: Hemoglobin, 13:79, 1989.

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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.