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
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
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
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.

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.