Hb Manitoba alpha102(G9)Ser->Arg
         
CONTACT Central cavity
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X moves slightly anodal to Hb A on starch gel at alkaline pH; Hb X moves as Hb S on citrate agar at acidic pH
CHROMATOGRAPHY Hb X and Hb A can be separated by both cation and anion exchange chromatography
STRUCTURE STUDIES Tryptic digestion; separation of peptides by fingerprinting and cation exchange chromatography; amino acid analysis
DNA ANALYSES An AGC->CGC mutation was found in codon 102 of the alpha2 gene; an AGC->AGA mutation was also found in codon 102 of the alpha1 gene (Ref. 4)
FUNCTIONAL STUDIES Not reported
STABILITY Slightly unstable; decreased dissociation; forms hybrids
OCCURRENCE Found in a few British, German-Irish, and Italian families
OTHER INFORMATION Quantity in the heterozygote: 19% alpha2 mutant; 24% alpha1 mutant
       
REFERENCES
1. Crookston, J.H., Farquharson, H.A., Kinderlerer, J.L., and Lehmann, H.: Can. J. Biochem., 48:911, 1970.
2. Wrightstone, R.N., Smith, L.L., Wilson, J.B., Vella, F., and Huisman, T.H.J.: Biochim. Biophys. Acta, 412:283, 1975.
3. Sciarratta, G.V., Ivaldi, G, Molaro, G.L., Sansone, G., Salkie, M.L., Wilson, J.B., Reese, A.L., and Huisman, T.H.J.: Hemoglobin, 8:169, 1984.
4. Molchanova, T.P., Pobedimskaya, D.D., and Huisman, T.H.J.: Br. J. Haematol., 88:300, 1994.


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.