Hb J-Norfolk	alpha57(E6)Gly->Asp

ALSO KNOWN AS		Kagoshima; Nishik-I; Nishik-II; Nishik-III
CONTACT		External
HEMATOLOGY		Normal in the heterozygote
ELECTROPHORESIS		Hb X moves to the position of Hb J on starch gel and cellulose acetate at alkaline pH; moves with Hb A (citrate agar) and ahead of Hb A on paper
CHROMATOGRAPHY		Hb X can be separated from Hb A by cation and anion exchange chromatography
STRUCTURE STUDIES		Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis; sequencing of selected peptides
DNA ANALYSES		Not reported; presumed mutation GGC->GAC; alpha2 or alpha1
FUNCTIONAL STUDIES		Normal oxygen affinity
STABILITY		Normal
OCCURRENCE		Found in English, Italian, Japanese, and Nepali families
OTHER INFORMATION		Quantity in heterozygotes around 25%

REFERENCES
1.		Ager, J.A.M., Lehmann, H., and Vella, F.: Br. Med. J., ii:539, 1958.
2.		Baglioni, C.: J. Biol. Chem., 237:69, 1962.
3.		Imamura, T., Am. J. Hum. Genet., 18:584, 1966.
4.		Mehrotra, T.N., Gupta, S.C., Sinha, R., Lehmann, H., and Wiltshire, B.G.: Humangenetik, 27:347, 1975.

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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.