Hb J-Singa alpha78(EF7)Asn->Asp
         
CONTACT External
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS The fast-moving Hb X separates from Hb A at alkaline pH
CHROMATOGRAPHY Hb X and Hb A were separated by DEAE-cellulose chromatography
STRUCTURE STUDIES Tryptic peptides were separated by reversed phase HPLC; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation AAC->GAC; alpha2 or alpha1
FUNCTIONAL STUDIES Not reported
STABILITY Normal
OCCURRENCE Found in a French-Acadian family living in Canada
OTHER INFORMATION Quantity in the heterozygote 25-32% (alpha-thal-2 was not excluded)
       
REFERENCES
1. Wong, S.C., Ali, M.A.M., Pond, J.R., Rubin, S.M., Johnson, S.E.N., Wilson, J.B., and Huisman, T.H.J.: Biochim. Biophys. Acta, 784:187, 1984.


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.