Hb Pôrto Alegre beta9(A6)Ser->Cys
CONTACT External
HEMATOLOGY Normal in heterozygotes and homozygotes
ELECTROPHORESIS Hb X migrates the same as Hb A on starch gel (pH 8.6); Hb X and Hb A can best be separated by IEF
CHROMATOGRAPHY Hb X and Hb A can be separated by DEAE-cellulose chromatography but not by cation exchange HPLC; the betaX and betaA chains partially separate by reversed phase HPLC
STRUCTURE STUDIES Tryptic digestion; cation exchange chromatography; amino acid analysis; Edman degradation
DNA ANALYSES A TCT->TGT mutation at codon 9 (Refs. 4 and 5)
FUNCTION STUDIES Both tetramer and disulfide polymers have oxygen affinities somewhat higher than normal Hb; slightly reduced cooperativity; normal Bohr effect
OCCURRENCE In several families from Brazil, Argentina, and the Canary Islands
OTHER INFORMATION Has been observed in homozygotes (Ref. 1); in association with beta-thal (Ref. 4), with Hb Santa Ana [beta88(F4)Leu->Pro (Ref. 5)]
1. Tondo, C.V., Salzano, F.M., and Rucknagel, D.L.: Am. J. Hum. Genet., 15:265, 1963.
2. Bonaventura, J. and Riggs, A.: Science, 158:800, 1967.
3. Tondo, C., Bonaventura, J., Bonaventura, C., Brunori, M., Amiconi, G., and Antonini, E.: Biochim. Biophys. Acta, 342:15, 1974.
4. Malcorra-Azpiazu, J.J., Wilson, J.B., Molchanova, T.P., Pobedimskaya, D.D., and Huisman, T.H.J.: Hemoglobin, 17:457, 1993.
5. Goncalves, M.S., Sonati, M.F., Kimura, M., Arruda, V.R., Costa, F.F., Nechtman, J.F., and Stoming, T.A.: Hemoglobin, 18:235, 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.