Hb Tacoma beta30(B12)Arg->Ser
CONTACT alpha1beta1 contact
HEMATOLOGY Normal in the heterozygote; Heinz bodies
ELECTROPHORESIS Hb X and Hb A separate at alkaline pH; Hb X is slightly faster than Hb A; best separation is obtained by IEF
CHROMATOGRAPHY Separation of Hb X and Hb A by anion exchange chromatography and by cation exchange HPLC
STRUCTURE STUDIES Proteolytic digestion of betaX+betaA chains; reversed phase HPLC or cation exchange chromatography; amino acid analysis
DNA ANALYSES An AGG->AGT mutation at codon 30 (Ref. 3); codon 30 is divided by intron 1 as follows: ---CTT*AG<-IVS-I->G*CTG*CTG---. It is the first nt G of exon 2 that is changed to T
FUNCTION STUDIES Normal oxygen affinity; decreased Bohr effect and cooperativity
OCCURRENCE Found in a few North European families (Russia, Finland, Sweden, USA)
OTHER INFORMATION Quantity in heterozygotes 43%
1. Baur, E.W. and Motulsky, A.G.: Humangenetik, 1:621, 1965.
2. Brimhall, B., Jones, R.T., Baur, E.W., and Motulsky, A.G.: Biochemistry, 8:2125, 1969.
3. Landin, B. and Jeppsson, J-O.: Hemoglobin, 17:303, 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.