Hb Evans	alpha62(E11)Val->Met

CONTACT		Internal; heme contact
HEMATOLOGY		Mild hemolytic anemia in the heterozygote
ELECTROPHORESIS		All electrophoretic methods used failed to detect an abnormal Hb
CHROMATOGRAPHY		Anion, cation exchange, and reversed phase HPLC failed to indicate the presence of an abnormal Hb
STRUCTURE STUDIES		Tryptic peptides of a mixture of alphaA+alphaX were separated by reversed phase HPLC; amino acid analysis; sequencing
DNA ANALYSES		Mutation in the alpha2 gene: GTG->ATG at codon 62
FUNCTIONAL STUDIES		Not reported
STABILITY		Unstable
OCCURRENCE		Found as a de novo mutation in a Caucasian female and her daughter
OTHER INFORMATION		Quantity in heterozygotes could not be determined with certainty; ~10% by heat denaturation

REFERENCES
1.		Wilson, J.B., Webber, B.B., Kutlar, A., Reese, A.L., McKie, V.C., Lutcher, C.L., Felice, A.E., and Huisman, T.H.J.: Hemoglobin 13:557, 1989.

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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.