Hb J-Habana alpha71(E20)Ala->Glu
         
CONTACT External
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS This fast-moving variant separates from Hb A at alkaline pH; Hb X moves to the position of Hb J-Baltimore on paper
CHROMATOGRAPHY Hb X was isolated on a DEAE-Sephadex column
STRUCTURE STUDIES Tryptic digestion; separation of peptides by fingerprinting and reversed phase HPLC; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation GCG->GAG; alpha2 or alpha1
FUNCTIONAL STUDIES Normal
STABILITY Normal
OCCURRENCE Found in a Cuban family and a few Japanese families
OTHER INFORMATION Quantity in heterozygotes ~20%
       
REFERENCES
1. Colombo, B., Vidal, H., Kamuzora, H., and Lehmann, H.: Biochim. Biophys. Acta, 351:1, 1974.
2. Ohba, Y., Yoshinaka, H., Hattori, Y., Matsuoka, M., and Miyaji, T.: Hemoglobin, 7:327, 1983.
3. Hidaka, K., Iuchi, I., Shimasaki, S., Mizuta, W., Takatsuka, M., Mori, T., Tohdoh, A., and Matsuo, M.: Hemoglobin, 10:65, 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.