Hb Duarte	beta62(E6)Ala->Pro

CONTACT		External
HEMATOLOGY		Near normal in the heterozygote; the proband with Hb X-beta-thal had mild hemolytic anemia, hypochromia, microcytosis, reticulocytosis
ELECTROPHORESIS		No separation reported
CHROMATOGRAPHY		Not reported
STRUCTURE STUDIES		Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis; Dansyl-Edman degradation
DNA ANALYSES		Not reported; presumed mutation GCT->CCT at codon 62
FUNCTION STUDIES		Increased oxygen affinity; normal cooperativity
STABILITY		Unstable
OCCURRENCE		Found in a father and son of German ancestry living in Duarte, California, USA
OTHER INFORMATION		Found with beta-thal

REFERENCES
1.		Beutler, E., Lang, A., and Lehmann, H.: Blood, 43:527, 1974.

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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.