Hb Madrid	beta115(G17)Ala->Pro

CONTACT		Internal; alpha1beta1 contact
HEMATOLOGY		Moderately severe hemolytic anemia in the heterozygote
ELECTROPHORESIS		No separation observed with any technique
CHROMATOGRAPHY		Hb X and Hb A separate by cation exchange HPLC; excellent separation of chains by reversed phase HPLC (elution order: betaX, betaA, alpha)
STRUCTURE STUDIES		Tryptic digestion; separation of the peptides by reversed phase HPLC; fingerprinting; amino acid analysis; sequencing
DNA ANALYSES		A GCC->CCC mutation at codon 115 (Ref. 2)
FUNCTION STUDIES		Not reported
STABILITY		Unstable
OCCURRENCE		Found in a 16-year-old male of Spanish origin (not in parents or siblings), and in a Black family
OTHER INFORMATION		Quantity in heterozygotes ~13%

REFERENCES
1.		Outeirino, J., Casey, R., White, J.M., and Lehmann, H.: Acta Haematol., 52:53, 1974.
2.		Molchanova, T.P., Postnikov, Yu.V., Wilson, J.B., Webber, B.B., Gu, L-H., Sabio, H., Waldron, P., and Huisman, T.H.J.: Hemoglobin, 17:251, 1993.

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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.