Hb J-Buda	alpha61(E10)Lys->Asn

CONTACT		External
HEMATOLOGY		Normal in the heterozygote
ELECTROPHORESIS		Hb X and Hb A separate at alkaline pH; Hb X moves to the position of Hb J on starch gel
CHROMATOGRAPHY		Hb X was isolated on a DEAE-Sephadex column
STRUCTURE STUDIES		Tryptic digestion; separation of peptides by cation exchange chromatography; glycinamidation; CNBr; chymotrypsin; thermolysin; sequencing
DNA ANALYSES		Not reported; presumed mutation AAG->AAC or AAT; alpha2 or alpha1
FUNCTIONAL STUDIES		Not reported
STABILITY		Not reported
OCCURRENCE		Found in a large Hungarian family
OTHER INFORMATION		Found in combination with Hb G-Pest [alpha74(EF3)Asp->Asn] and Hb A in three individuals (causes erythrocytosis); this family study was the first to offer convincing evidence for the presence of duplicated alpha-globin genes in humans

REFERENCES
1.		Hollan, S.R., Szelenyi, J.G., Brimhall, B., Duerst, M., Jones, R.T., and Koler, R.D.: 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.

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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.