Hb Adana alpha59(E8)Gly->Asp
         
CONTACT Internal
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X can be separated from Hb A by IEF; Hb X focuses ahead of Hb A
CHROMATOGRAPHY Hb X can be separated from Hb A by cation exchange HPLC
STRUCTURE STUDIES See DNA analyses
DNA ANALYSES Sequencing of amplified DNA which included the alpha-globin genes identified the variant; a GGC->GAC mutation was observed at codon 59 of the alpha1 gene
FUNCTIONAL STUDIES Not reported
STABILITY Severely unstable
OCCURRENCE Found in a Turkish family
OTHER INFORMATION This variant occurred in three children in combination with the -(alpha)20.5 kb alpha-thal-1 deletion; all three had Hb H disease; the quantity of Hb Adana in heterozygotes could not be determined
       
REFERENCES
1. Altay, C., Say, B., Yetgin, S., and Huisman, T.H.J.: Am. J. Hematol., 2:1, 1977.
2. Çürük, M.A., Dimovski, A.J., Baysal, E., Gu, L-H., Kutlar, F., Molchanova, T.P., Webber, B.B., Altay, Ç., Gürgey, A., and Huisman, T.H.J.: Am. J. Hematol., 44:270, 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.