Hb J-Guantanamo beta128(H6)Ala->Asp
         
CONTACT External; alpha1beta1 contact
HEMATOLOGY Mild hemolytic anemia with target cells in the heterozygote
ELECTROPHORESIS Hb X and Hb A separate at alkaline pH; Hb X moves ahead of Hb A
CHROMATOGRAPHY Hb X was isolated on a DEAE-Sephadex column
STRUCTURE STUDIES Tryptic digestion of betaX chain; fingerprinting; amino acid analysis
DNA ANALYSES Not reported; presumed mutation GCT->GAT at codon 128
FUNCTION STUDIES Not reported
STABILITY Unstable
OCCURRENCE Found in three members of a Cuban family, a Chilean newborn, a Chinese family, a family from Benin, and in a Japanese family
OTHER INFORMATION Quantity in the heterozygote 36-38%; found in combination with Hb C
       
REFERENCES
1. Martinez, G., Lima, F., and Colombo, B.: Biochim. Biophys. Acta, 491:1, 1977.
2. Wajcman, H., Baudin-Chich, V., Kister, J., Feo, C., Gombaud-Saintonge, G., Bohn, B., Marden, M., Pagnier, J., Poyart, C., Dodé, C., Galacteros, F., Blouquit, Y., Cynober, T., and Tchernia, G.: Am. J. Hematol., 28:170, 1988.
3. Zhu, L.H., Li, M., and Wang, S.J.: Hemoglobin, 12:189, 1988.
4. Sciarratta, G.V., Ivaldi, G., and Moruzzi, F.: Hemoglobin, 14:115, 1990.
5. Yamagishi, Y., Ikeda, K., Takahara, J., Irino, S., Hasui, H., Fujiwara, T., Kaji, Y., Harano, T., and Harano, K.: Hemoglobin, 17:379, 1993.


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.