Hb Milledgeville	alpha44(CE2)Pro->Leu

CONTACT		External
HEMATOLOGY		Mild erythrocytosis
ELECTROPHORESIS		Hb X and Hb A did not separate by electrophoretic methods, including IEF
CHROMATOGRAPHY		Hb X did not separate by CM-cellulose or IRC-50; no abnormal globin chain could be isolated
STRUCTURE STUDIES		Fingerprinting of peptides obtained by proteolysis of the entire alpha chain; amino acid analysis
DNA ANALYSES		Not reported; presumed mutation CCG->CTG; alpha2 or alpha1
FUNCTIONAL STUDIES		Increased oxygen affinity, normal Bohr effect, reduced cooperativity (analyses of freshly collected blood)
STABILITY		Normal
OCCURRENCE		Found in three members of a Black family
OTHER INFORMATION		Quantity in the heterozygote could not be determined

REFERENCES
1.		Honig, G.R., Vida, L.N., Shamsuddin, M., Mason, R.G., Schlumpf, H.W., and Luke, R.A.: Biochim. Biophys. Acta, 626:424, 1980.

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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.