Hb Agrinio alpha29(B10)Leu->Pro
         
CONTACT Internal
HEMATOLOGY Microcytosis and hypochromia in the heterozygote
ELECTROPHORESIS Hb X is not detectable
CHROMATOGRAPHY Hb X is not detectable
STRUCTURE STUDIES Not possible
DNA ANALYSES Hb X was identified by sequencing of amplified DNA; a CTG->CCG mutation at codon 29 of the alpha2 gene
FUNCTIONAL STUDIES Not possible
STABILITY Unstable because of the introduction of a proline residue in the middle of the B helix
OCCURRENCE Found in three Greek Cypriots
OTHER INFORMATION The patients had atypical Hb H disease, severe anemia, hypochromia, and microcytosis
       
REFERENCES
1. Hall, G.W., Thein, S.L., Newland, A.C., Chisholm, M., Traeger-Synodinos, J., Kanavakis, E., Kattamis, C., and Higgs, D.R.: Br. J. Haematol., 85:546, 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.