Hb J-Calabria	beta64(E8)Gly->Asp

ALSO KNOWN AS		J-Bari; J-Cosenza
CONTACT		Internal
HEMATOLOGY		Normal in the heterozygote; Heinz bodies produced by brilliant cresyl blue
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 and cation exchange chromatography; amino acid analysis; sequencing
DNA ANALYSES		Not reported; presumed mutation GGC->GAC at codon 64
FUNCTION STUDIES		Increased oxygen affinity; normal cooperativity and Bohr effect
STABILITY		Mildly unstable
OCCURRENCE		Found in members of a French family and in a Chinese male
OTHER INFORMATION		Quantity in heterozygotes 38%; found in combination with beta-thal

REFERENCES
1.		Blouquit, Y., Thillet, J., Beuzard, Y., Vernant, J.P., and Dreyfus, B.: Biochim. Biophys. Acta, 492:426, 1977.
2.		Chen, S., Yang, K., Jia, P., Liang, C., Long, G., Tang, Z., Huang, L., Su, R., Yu, C., and Liang, X.: Acta Acad. Med. Sin., 4:6, 1982.

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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.