Hb J-Broussais alpha90(FG2)Lys->Asn
CONTACT External
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X moves to the position of Hb J on paper and starch gel at alkaline but not at acidic pH; Hb X and Hb A do not separate on agar gel; it moves like Hb A on citrate agar
CHROMATOGRAPHY Hb A and Hb X can be separated by cation and anion exchange HPLC
STRUCTURE STUDIES Tryptic digestion; separation of peptides by fingerprinting or reversed phase HPLC; amino acid analysis; sequencing
DNA ANALYSES An AAG->AAT mutation was observed at codon 90 of the alpha2 gene; an AAG->AAC mutation has also been found at codon 90 of the alpha1 gene (Ref. 6)
FUNCTIONAL STUDIES Normal oxygen affinity
OCCURRENCE Found in French, French-Canadian, Australian, and Japanese families
OTHER INFORMATION Quantity in the heterozygote: 24-25% for the alpha2 mutation; 20.5% for the alpha1 mutation
1. De Traverse, P.M., Lehmann, H., Coquelet, M.L., Beale, D., and Isaacs, W.A.: Compt. R. Sceanc. Soc. Biol., 160:2270, 1966.
2. Yanase, T., Hanada, M., Seita, M., Ohya, I., Ohta, Y., Imamura, T., Fujimura, T., Kawasaki, K., and Yamaoka, K.: Jpn. J. Hum. Genet., 13:40, 1968.
3. Vella, F., Charlesworth, D., Lorkin, P.A., and Lehmann, H.: Can. J. Biochem., 48:908, 1970.
4. Braconnier, F., Cohen-Solal, M., Schlegel, N., Blouquit, Y., Thillet, J., Cassius de Linval, J., and Rosa, J.: Nouv. Rev. Fr. d'Hematol., 15:333, 1975.
5. Fleming, P.J., Arnold, B.J., Thompson, E.O.P., Hughes, W.G., and Morgan, L.: Pathology, 10:317, 1978.
6. Molchanova, T.P., Pobedimskaya, D.D., and Huisman, T.H.J.: Br. J. Haematol., 88:300, 1994.

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.