Hb D-Bushman beta16(A13)Gly->Arg
         
CONTACT External
HEMATOLOGY Probably normal in the heterozygote
ELECTROPHORESIS Hb X moves to the position of Hb S on starch block at alkaline pH
CHROMATOGRAPHY Not reported
STRUCTURE STUDIES Tryptic digestion; fingerprinting; amino acid analysis
DNA ANALYSES Not reported; presumed mutation GGC->CGC at codon 16
FUNCTION STUDIES Not reported
STABILITY Not reported
OCCURRENCE Found in members of a Kalahari Bushman family
OTHER INFORMATION Quantity in heterozygotes 34-39%
       
REFERENCES
1. Wade, P.T., Jenkins, T., and Huehns, E.R.: Nature, 216:688, 1967.


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.