Hb Q-Iran alpha75(EF4)Asp->His
         
CONTACT External
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X moves to the position of Hb S at alkaline pH
CHROMATOGRAPHY Hb X and Hb A can be separated by cation and anion exchange HPLC
STRUCTURE STUDIES Tryptic digestion; separation of peptides by fingerprinting or reversed phase HPLC; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation GAC->CAC; alpha2 or alpha1
FUNCTIONAL STUDIES Not reported
STABILITY Stable
OCCURRENCE Found in a few Iranian and Turkish families
OTHER INFORMATION Quantity in the heterozygote 17-19%
       
REFERENCES
1. Lorkin, P.A., Charlesworth, D., Lehmann, H., Rahbar, S., Tuchinda, S., and Lie-Injo, L.E.: Br. J. Haematol., 19:117, 1970.
2. Lie-Injo, L.E., Dozy, A.M., Kan, Y.W., Lopes, M., and Todd, D.: Blood, 54:1407, 1979.
3. Aksoy, M., Gurgey, A., Altay, Ç., Kilinç, Y., Carstairs, K.C., Kutlar, A., Chen, S.S., Webber, B.B., Wilson, J.B., and Huisman, T.H.J.: Hemoglobin, 10:215, 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.