Hb Savaria	alpha49(CE7)Ser->Arg

CONTACT		External
HEMATOLOGY		Normal in the heterozygote
ELECTROPHORESIS		Hb X and Hb A separate at alkaline and acidic pH; Hb X moves as Hb S on starch gel
CHROMATOGRAPHY		Hb X separates from Hb A by anion exchange chromatography
STRUCTURE STUDIES		Tryptic digestion; the peptides were separated by fingerprinting; reversed phase HPLC; amino acid analysis
DNA ANALYSES		Not reported; presumed mutation AGC->CGC; alpha2 or alpha1
FUNCTIONAL STUDIES		Normal oxygen affinity
STABILITY		Normal
OCCURRENCE		Found in Hungarian, Yugoslavian, and Kenyan families
OTHER INFORMATION		Quantity in heterozygotes 22-23%

REFERENCES
1.		Szelényi, J.G., Horányi, M., Földi, J., Hudacsek, J., István, L., and Hollán, S.R.: Hemoglobin, 4:27, 1980.
2.		Juricic, D., Efremov, G.D., Wilson, J.B., and Huisman,T.H.J.: Hemoglobin, 9: 631, 1985.

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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.