Hb Osu-Christiansborg	beta52(D3)Asp->Asn

CONTACT		External
HEMATOLOGY		Normal in the heterozygote
ELECTROPHORESIS		Hb X and Hb A separate at alkaline pH (Hb X in the position of Hb S) but not at acidic pH
CHROMATOGRAPHY		Hb X and Hb A separate by anion and cation exchange HPLC
STRUCTURE STUDIES		Tryptic digestion; fingerprinting; amino acid analysis; thermolysin digestion; sequencing
DNA ANALYSES		Not reported; presumed mutation GAT->AAT at codon 52
FUNCTION STUDIES		Normal
STABILITY		Normal
OCCURRENCE		Found in members of a family living in Accra, Ghana, in an Iranian family, and in Blacks in the USA
OTHER INFORMATION		Quantity in the heterozygote 42-45%; also found in combination with Hb S

REFERENCES
1.		Konotey-Ahulu, F.I.D., Kinderlerer, J.L., Lehmann, H., and Ringelhann, B.: J. Med. Genet., 3:302, 1977.
2.		Rahbar, S., Mostafavi, I., and Ala, F.: Hemoglobin, 2:175, 1978.

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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.