Hb G-Pest alpha74(EF3)Asp->Asn
         
CONTACT External
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X moves to the position of Hb S on starch gel at alkaline pH
CHROMATOGRAPHY Hb X was isolated on a DEAE-Sephadex column
STRUCTURE STUDIES Tryptic digestion; separation of peptides by cation exchange chromatography; amino acid analysis; glycinamindation; CNBr; sequencing
DNA ANALYSES Not reported; presumed mutation GAC->AAC; alpha2 or alpha1
FUNCTIONAL STUDIES Not reported
STABILITY Not reported
OCCURRENCE Found in a large Hungarian family
OTHER INFORMATION Found in combination with Hb J-Buda [alpha61(E10)Lys->Asn] and Hb A in the same individual; quantity in the heterozygote 23%; this study was the first to provide definitive information regarding the duplication of the alpha gene locus
       
REFERENCES
1. Hollan, S.R., Szelenyi, J.G., Brimhall, B., Duerst, M., Jones, R.T., Koler, R.D., and Stocklen, Z.: Nature, 235:47, 1972.
2. Brimhall, B., Duerst, M., Hollan, S.R., Stenzel, P., Szelenyi, J., and Jones, R.T.: Biochim. Biophys. Acta, 336:344, 1974.


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.