Hb Riyadh	beta120(GH3)Lys->Asn

ALSO KNOWN AS		Karatsu
CONTACT		External
HEMATOLOGY		Normal in the heterozygote
ELECTROPHORESIS		Hb X and Hb A separate at alkaline pH (Hb X moves faster); no separation at acidic pH
CHROMATOGRAPHY		Hb X and Hb A separate by cation and anion exchange chromatography
STRUCTURE STUDIES		Tryptic digestion of AE-betaX chain; separation of the peptides by fingerprinting or cation exchange chromatography; amino acid analysis; sequencing
DNA ANALYSES		Not reported; presumed mutation AAA->AAC or AAT at codon 120
FUNCTION STUDIES		Normal oxygen affinity
STABILITY		Normal
OCCURRENCE		Found in members of a few Saudi Arabian families, in a family of Mexican-Spanish ancestry, in members of an Asian Indian family, and in an 82-year-old Japanese male
OTHER INFORMATION		Quantity in the heterozygote 50-54%; found in combination with alpha- and betao-thal

REFERENCES
1.		El-Hazmi, M.A.F. and Lehmann, H.: Hemoglobin, 1:59, 1976.
2.		Budge, L.J., Bradley, T.B., and Graham, J.L.: Hemoglobin, 1:283, 1977.
3.		Miyaji, T., Ohba, Y., Matsuoka, M., Kudoh, H., Asano, M., Yamamoto, K., and Satoh, T.: Hemoglobin 1:462, 1977.
4.		Pinkerton, P.H., Wilson, J.B., Lam, H., Williams, D., and Huisman, T.H.J.: Hemoglobin, 3:451, 1979.
5.		Hidaka, K. and Iuchi, I.: Kawasaki Med. J., 12:149, 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.