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
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
OCCURRENCE Found in a father and son of German ancestry living in Duarte, California, USA
OTHER INFORMATION Found with beta-thal
1. Beutler, E., Lang, A., and Lehmann, H.: Blood, 43:527, 1974.

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.