Hb Atlanta beta75(E19)Leu->Pro
CONTACT Internal
HEMATOLOGY Mild hemolytic anemia in the heterozygote with Heinz body formation; reticulocytosis
ELECTROPHORESIS No separation with standard procedures; good separation with IEF
CHROMATOGRAPHY No separation by cation or anion exchange HPLC; betaX and betaA readily separate by reversed phase HPLC
STRUCTURE STUDIES pCMB precipitation; tryptic digestion; separation of peptides by cation exchange chromatography; amino acid analysis; Edman-Dansyl degradation
DNA ANALYSES A CTG->CCG mutation at codon 75
OCCURRENCE Found in several members of a Caucasian family living in Atlanta, Georgia, USA; in a patient from New Zealand, and in a large Dutch family (unpublished)
OTHER INFORMATION Splenectomy improves anemia; quantity in the heterozygote 33%; a leucine->hydroxyleucine change occurred, indirectly caused by the Leu->Pro replacement at codon 75
1. Hubbard, M., Winton, E.F., Lindeman, J.G., Dessauer, P.L., Wilson, J.B., Wrightstone, R.N., and Huisman, T.H.J.: Biochim. Biophys. Acta, 386:538, 1975.
2. Brennan, S.O., Williamson, D., Symmans, W.A., and Carrell, R.W.: Hemoglobin, 7:303, 1983.
3. Brennan, S.O., Williamson, D., Symmans, W.A., and Carrell, R.W.: Hemoglobin, 10:225, 1986.
4. Brennan, S.O., Shaw, J.G., George, P.M., and Huisman, T.H.J.: Hemoglobin, 17: 1, 1993.

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.