Hb Trollhättan beta20(B2)Val->Glu
CONTACT External
HEMATOLOGY Mild erythrocytosis in the heterozygote
ELECTROPHORESIS Hb X and Hb A separate at alkaline pH; excellent separation by IEF
CHROMATOGRAPHY Hb X and Hb A separate by anion exchange HPLC
STRUCTURE STUDIES Lysylendopeptidase digestion; reversed phase HPLC; amino acid analysis
DNA ANALYSES A GTG->GAG mutation at codon 20
FUNCTION STUDIES Increased oxygen affinity
OCCURRENCE Found in a Swedish family
OTHER INFORMATION Quantity in the heterozygote 48-51%; mutation was confirmed by restriction enzyme analysis (Mae II)
1. Landin, B., Berglund, S., and Lindoff, B.: Eur. J. Haematol., 53:21, 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.