Hb J-Baltimore beta16(A13)Gly->Asp
         
ALSO KNOWN AS J-Trinidad; J-Ireland; N-New Haven; J-Georgia
CONTACT External
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X moves faster than Hb A on paper and starch gel at alkaline pH; Hb X moves as Hb S on citrate agar at pH 5.9; excellent separation by IEF
CHROMATOGRAPHY Hb X and Hb A can be separated by cation and anion exchange chromatography
STRUCTURE STUDIES Tryptic digestion; fingerprinting; cation exchange chromatography; reversed phase HPLC; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation GGC->GAC at codon 16
FUNCTION STUDIES Normal
STABILITY Normal
OCCURRENCE Found in Black, English, Dutch, French, Swedish, and Spanish families; sometimes together with Hb S or with beta-thal
OTHER INFORMATION Quantity in heterozygotes 40-45%
       
REFERENCES
1. Baglioni, C. and Weatherall, D.J.: Biochim. Biophys. Acta, 87:637, 1963.
2. Wong, S.C., Bouver, N., Wilson, J.B., and Huisman, T.H.J.: Clin. Chim. Acta, 16:368, 1971.
3. Landin, B. and Jeppsson, J-O.: Hemoglobin, 17:303, 1993.
4. Arribalzaga, K., Ricard, M.P., Carreño, D.L., Sanchez, J., Gonzalez, A., Ropero, P., and Villegas, A.: Hemoglobin, 20:79, 1996.


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.