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
OCCURRENCE Found in a few Italian families
OTHER INFORMATION Quantity in heterozygotes difficult to determine; it is estimated at ~10%; anemia is drug induced
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.

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.