Hb Knossos beta27(B9)Ala->Ser
CONTACT Internal
HEMATOLOGY Heterozygote: Normal values but with mild microcytosis and hypochromia; homozygote: Moderate anemia with severe microcytosis and hypochromia
ELECTROPHORESIS No separation at alkaline and acidic pH; Hb X and Hb A can be separated by IEF; more cathodal but very close to Hb A
CHROMATOGRAPHY Hb X and Hb A do not separate by cation exchange chromatography; the betaX and betaA chains can be separated by reversed phase HPLC in which betaX elutes ahead of betaA, and also by PAGE
STRUCTURE STUDIES Tryptic digestion; fingerprinting; cation exchange chromatography; reversed phase HPLC; amino acid analysis; sequencing
DNA ANALYSES A GCC->TCC mutation at codon 27
FUNCTION STUDIES Decreased oxygen affinity
OCCURRENCE Found in various Mediterranean families; also in combination with classical beta-thal, and with Hb S
OTHER INFORMATION Quantity in the heterozygote 35-40%; thalassemic features due to the creation of an alternate splicing site
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3. Fessas, Ph., Loukopoulos, D., Kokkinou, S., Papasotiriou, Y., and Karaklis, A.: Am. J. Hematol., 21:119, 1986.
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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.