Hb Dieppe beta127(H5)Gln->Arg
         
CONTACT alpha1beta1 contact
HEMATOLOGY Chronic anemia in the heterozygote; thalassemic; reticulocytosis; no Heinz bodies
ELECTROPHORESIS No abnormality detected
CHROMATOGRAPHY Not reported
STRUCTURE STUDIES Not reported
DNA ANALYSES A CAG->CGG mutation at codon 127
FUNCTION STUDIES Not reported
STABILITY Highly unstable
OCCURRENCE Found in a 31-year-old French female
OTHER INFORMATION Patient required occasional blood transfusions; she has elevated Hb F (~18%) and an alpha/beta in vitro chain synthesis ratio of 2.1
       
REFERENCES
1. Girodon, E., Ghanem, N., Vidaud, M., Riou, J., Martin, J., Galactéros, F., and Goossens, M.: Ann. Hematol., 65:188, 1992.


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.