Hb J-Paris-I	alpha12(A10)Ala->Asp

ALSO KNOWN AS		J-Aljezur
CONTACT		External
HEMATOLOGY		Normal in the heterozygote
ELECTROPHORESIS		Hb X moves faster than Hb A on starch gel and cellulose acetate (pH 8.6); it moves with Hb A on agar gel
CHROMATOGRAPHY		Hb X was isolated by DEAE-Sephadex chromatography
STRUCTURE STUDIES		Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis; Edman-degradation
DNA ANALYSES		Mutations in both the alpha2 and alpha1 genes: GCC->GAC at codon 12 (Ref. 6)
FUNCTIONAL STUDIES		Not reported
STABILITY		Normal
OCCURRENCE		Found in Spanish, Portuguese, Iranian, Yugoslavian, and Punjabi families
OTHER INFORMATION		Quantity in heterozygotes 26.6%

REFERENCES
1.		Rosa, J., Maleknia, N., Vergoz, D., and Dunet, R.: Nouv. Rev. Fr. d'Hematol., 6: 423, 1965.
2.		Trincao, C., Martins de Melo, J., Lorkin, P.A., and Lehmann, H.: Acta Haematol., 39:291, 1968.
3.		Rahbar, S., Sooudi, H., and Daneshmand, P.: Acta Haematol., 47:43, 1972.
4.		Niazi, G.A., Efremov, G.D., Nikolov, N., Hunter, E., and Huisman, T.H.J.: Biochim. Biophys. Acta, 412:181, 1975.
5.		Dash, S. and Huisman, T.H.J.: Acta Haematol., 79:117, 1988.
6.		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.