K-Cameroon.html

Hb K-Cameroon	beta129(H7)Ala->Asp or Glu
	(characterization was incomplete)


CONTACT		Internal
HEMATOLOGY		Apparently normal in the heterozygote
ELECTROPHORESIS		Hb X and Hb A separate at alkaline pH; Hb X moves ahead of Hb A
CHROMATOGRAPHY		Not reported
STRUCTURE STUDIES		Tryptic digestion; fingerprinting; amino acid analysis
DNA ANALYSES		Not reported; presumed mutation GCC->GAC at codon 129
FUNCTION STUDIES		Not reported
STABILITY		Not reported
OCCURRENCE		Found in a female blood donor from Cameroon
OTHER INFORMATION		Quantity in the heterozygote 75%; found in combination with Hb S; characterization by protein analysis was incomplete; codon 129 is GCC (Ala), that can be mutated to GAC (Ala-> Asp) but not easily to GAA or GAG (Ala->Glu)


REFERENCES
1.		Allan, N., Beale, D., Irvine, D., and Lehmann, H.: Nature, 208:658, 1965.

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.