Hb Geelong	beta139(H17)Asn->Asp

CONTACT		Central cavity
HEMATOLOGY		Anemia in the carrier who was also heterozygous for a beta+-thal allele; reticulocytosis
ELECTROPHORESIS		No separation of Hb X and Hb A was reported
CHROMATOGRAPHY		Not reported
STRUCTURE STUDIES		Tryptic digestion of betaX chain; separation of peptides by fingerprinting; amino acid analysis; Dansyl-Edman degradation confirmed the Asn->Asp mutation at beta139
DNA ANALYSES		Not reported; presumed mutation AAT->GAT at codon 139
FUNCTION STUDIES		Normal
STABILITY		Mildly unstable
OCCURRENCE		Found in a 43-year-old German woman of Polish-Russian descent; family studies were not possible
OTHER INFORMATION		Quantity of Hb X in the proband estimated at 15-20%; Hb A2 6.7%; Hb F 1.5%; the beta+-thal was not identified

REFERENCES
1.		Como, P.F., Hocking, D.R., Swinton, G.W., Trent, R.J., Holland, R.A.B., Tibben, E.A., Wilkinson, T., and Kronenberg, H.: Hemoglobin, 15:85, 1991.

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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.