Hb J-Tongariki	alpha115(GH3)Ala->Asp

CONTACT		External
HEMATOLOGY		Microcytosis and hypochromia in the heterozygote
ELECTROPHORESIS		Hb X moves faster than Hb A at alkaline pH; excellent separation by IEF
CHROMATOGRAPHY		Not reported
STRUCTURE STUDIES		Fingerprinting; amino acid analysis; sequencing
DNA ANALYSES		A GCC->GAC mutation at codon 115 occurs in the alpha2alpha1 hybrid gene of an alpha-thal-2 (3.7 kb) deletion
FUNCTIONAL STUDIES		Not reported
STABILITY		Not reported
OCCURRENCE		Found in Melanesians from Tongariki Island and in the Kilengi tribe on New Guinea and Kar Kar Island
OTHER INFORMATION		Quantity in heterozygotes 45-50%; homozygotes 96-97% (remainder alpha2Jdelta2)

REFERENCES
1.		Gajdusek, D.C., Guiart, J., Kirk, R.L., Carrell, R.W., Irvine, D.L., Kynoch, P.A.M., and Lehmann, H.: N.Z. Med. J. Suppl., 65:849, 1966.
2.		Abramson, R.K., Rucknagel, D.L., Shreffler, D.C., and Saave, J.J.: Science, 169: 194, 1970.
3.		Old, J.M., Clegg, J.B., Weatherall, D.J., and Booth, P.B.: Nature, 273:319, 1978.

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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.