Hb Q-Thailand alpha74(EF3)Asp->His
ALSO KNOWN AS G-Taichung; Mahidol; Kurashiki; Asabara
CONTACT External
HEMATOLOGY Mild thalassemic features in the heterozygote
ELECTROPHORESIS Hb X moves to the position of Hb S on paper and to the position of Hb G on starch gel and cellulose acetate at alkaline pH; excellent separation by IEF
CHROMATOGRAPHY Hb X and Hb A separate by cation and anion exchange HPLC
STRUCTURE STUDIES Tryptic digestion; separation of peptides by fingerprinting and reversed phase HPLC; amino acid analysis; sequencing
DNA ANALYSES A GAC->CAC mutation at codon 74 in the alpha1 gene of an alpha-thal-2 chromosome (-4.2 kb) (Ref. 9)
FUNCTIONAL STUDIES Normal oxygen affinity, Bohr effect, and cooperativity
OCCURRENCE Found in Chinese, Thai, and Japanese families
OTHER INFORMATION The Hb Q-Thailand mutation occurs in the alpha1-globin gene on a chromosome with the alpha2-globin gene deleted; the quantity in the heterozygote is therefore a high 30-35%
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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.