Hb Koya Dora alpha142, Term->Ser (TAA->TCA in alpha2 or alpha1);
modified C-terminal sequence is not definitely established
but likely similar to Hb CS except that residue 142 is SER
HEMATOLOGY Inconclusive
ELECTROPHORESIS Hb X moves slower than Hb A2 at alkaline pH
CHROMATOGRAPHY Hb X was isolated by DEAE-cellulose chromatography
STRUCTURE STUDIES Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation TAA->TCA at codon alpha142 (alpha2 or alpha1); the Hb Koya Dora abnormality can best be detected by sequencing of the alpha genes and dot-blot analysis with specific probes
STABILITY Not reported
OCCURRENCE Found in approximately 10% of the Koya Dora tribe from Andhra Pradesh, India
OTHER INFORMATION Quantity in the heterozygote 0.5-2%; up to 10% in the homozygote; found in combination with Hb Rampa [alpha95(G2) Pro->Ser]
1. De Jong, W.W.W., Meera Khan, P., and Bernini, L.F.: Am. J. Hum. Genet., 27:81, 1975.

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.