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
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
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
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.

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.