Hb Torino	alpha43(CE1)Phe->Val

CONTACT		Heme contact
HEMATOLOGY		Heinz body hemolytic anemia
ELECTROPHORESIS		Separation of Hb X and Hb A is most difficult; Hb X moves with Hb A on paper (pH 8.9) and on starch gel at alkaline pH; data obtained by IEF are not available
CHROMATOGRAPHY		Data obtained by HPLC procedures are not available
STRUCTURE STUDIES		Tryptic digestion; separation of peptides by fingerprinting, amino acid analysis; sequencing of a selected peptide
DNA ANALYSES		Not reported; presumed mutation TTC->GTC; alpha2 or alpha1
FUNCTIONAL STUDIES		No data for the isolated Hb X
STABILITY		Unstable
OCCURRENCE		Found in a few Italian families
OTHER INFORMATION		Quantity in heterozygotes difficult to determine; it is estimated at ~10%; anemia is drug induced

REFERENCES
1.		Beretta, A., Prato, V., Gallo, E., and Lehmann, H.: Nature, 217:1016, 1968.
2.		Prato, V., Gallo, E., Ricco, G., Mazza, U., Bianco, G., and Lehmann, H.: Br. J. Haematol., 19:105, 1970.
3.		Sansone, G., Sciarratta, G.V., Lang, A., Lorkin, P.A., and Lehmann, H.: Acta Haematol., 56:225, 1976.

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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.