Hb Duan alpha75(EF4)Asp->Ala
         
CONTACT External
HEMATOLOGY Mild microcytosis and hypochromia in the heterozygote
ELECTROPHORESIS Hb X moves between Hb S and Hb F on cellulose acetate at alkaline pH
CHROMATOGRAPHY Hb X and Hb A separate by anion exchange HPLC
STRUCTURE STUDIES Tryptic digestion; separation of peptides by fingerprinting or reversed phase HPLC; amino acid analysis; sequencing
DNA ANALYSES A GAC->GCC mutation at codon 75 of the alpha1 gene on a chromosome with the 4.2 kb deletion that removes the alpha2 gene
FUNCTIONAL STUDIES Not reported
STABILITY Stable
OCCURRENCE Found in a few Chinese families
OTHER INFORMATION Quantity in heterozygotes ~37%; this high level is due to the additional alpha-thal-2 (4.2 kb) deletion
       
REFERENCES
1. Liang, C-C., Chen, S-S., Jia, P-C., Wang, L-F., Luo, H-Y., Liu, G-Y., Liang, S., Lung, G-F., Yu, C-M., Zhuang, L-Z., Liang, B-L., and Tang, Z-N.: Hemoglobin, 5:481, 1981.
2. Liang, S., Tang, Z., Su, C., Lung, Q., Liang, R., Fei, Y.J., Kutlar, F., Wilson, J.B., Webber, B.B., Hu, H., and Huisman, T.H.J.: Hemoglobin, 12:13, 1988.


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.