Hb Q-India	alpha64(E13)Asp->His

CONTACT		External
HEMATOLOGY		Normal in the heterozygote
ELECTROPHORESIS		Hb X and Hb A separate at alkaline and acidic pH; Hb X moves to the position of Hb S on paper, starch gel, and cellulose acetate; moves between Hb A and Hb S, as a sharp band closer to Hb A on citrate agar
CHROMATOGRAPHY		Hb X can be isolated by DEAE-Sephadex chromatography
STRUCTURE STUDIES		Tryptic digestion; separation of peptides by fingerprinting and cation exchange chromatography; amino acid analysis; sequencing
DNA ANALYSES		Mutation in the alpha1 gene: GAC->CAC at codon 64 (Ref. 3)
FUNCTIONAL STUDIES		Normal
STABILITY		Normal
OCCURRENCE		Found in three Hindu families and in a Canadian family of mixed French and Iranian ancestry
OTHER INFORMATION		Quantity in heterozygotes ~17%; found in combination with beta-thal

REFERENCES
1.		Sukumaran, P.K., Merchant, S.M., Desai, M.P., Wiltshire, B.G., and Lehmann, H.: J. Med. Genet., 9:436, 1972.
2.		Schmidt, R.M., Ali, M.A.M., Bechtel, K.C., and Moo-Penn, W.F.: Am. J. Clin. Pathol., 66:446, 1976.
3.		Molchanova, T.P., Pobedimskaya, D.D., and Huisman, T.H.J.: Br. J. Haematol., 88:300, 1994.

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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.