Hb J-Sardegna	alpha50(CE8)His->Asp

CONTACT		External
HEMATOLOGY		Normal in the heterozygote
ELECTROPHORESIS		Hb X and Hb A separate at alkaline pH; Hb X moves as Hb J on cellogel
CHROMATOGRAPHY		Hb X and Hb A separate by chromatography
STRUCTURE STUDIES		Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis
DNA ANALYSES		Not reported; presumed mutation CAC->GAC; alpha2 or alpha1
FUNCTIONAL STUDIES		Not reported
STABILITY		Not reported
OCCURRENCE		Found in Italian families
OTHER INFORMATION		Quantity in heterozygotes ~20-22%; found in combination with beta-thal and with Hb G-Philadelphia

REFERENCES
1.		Tangheroni, W., Zorcolo, G., Gallo, E., and Lehmann, H.: Nature, 218:470, 1968.
2.		Tangheroni, W., Zorcolo, G., Gallo, E., and Lehmann, H.: Helv. Paediatr. Acta, 24:174, 1969.
3.		Gallo, E., Pugliatti, L., Ricco, G., Pich, P.G., Pinna, G., and Mazza, U.: Acta Haematol., 47:311, 1972.
4.		Meloni, T., Pilo, G., Camardella, L., Cancedda, F., Lania, A., Pepe, G., and Luzzatto, L.: Blood, 55:1025, 1980.

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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.