Hb Manukau	beta67(E11)Val->Gly

CONTACT		Heme contact
HEMATOLOGY		Moderate monochromic normocytic anemia; no cyanosis; no Heinz bodies
ELECTROPHORESIS		No abnormal Hb detected by standard techniques, including IEF
CHROMATOGRAPHY		Not reported
STRUCTURE STUDIES		Tryptic digestion; separation of peptides by fingerprinting; amino acid analysis; betaT-9 and betaT-8,9 were abnormal (Val-> Gly); peptide betaT-14 was also abnormal (beta141 Leu oxidized to beta141 hydroxyleucine); see also Hb Atlanta (beta75 Leu->Pro)
DNA ANALYSES		A GTG->GGG mutation at codon 67
FUNCTION STUDIES		Not reported
STABILITY		Unstable
OCCURRENCE		Found in a father and two sons of a Niuean/Maori family from New Zealand
OTHER INFORMATION		Father mildly affected; he is an alpha-thal-2 homozygote (-alpha/alphaalpha); the two sons are more severely affected; both have the -alpha/alphaalphaalpha genic arrangement

REFERENCES
1.		Fay, K.C., Brennan, S.O., Costello, J.M., Potter, H.C., Williamson, D.A., Trent, R.J., Ockleford, P.A., and Boswell, D.R.: Br. J. Haematol., 85:352, 1993.

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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.