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
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
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)
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.

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.