Hb Tonosho alpha110(G17)Ala->Thr
         
CONTACT Internal
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS IEF reveals an abnormal band focusing along the cathodic edge of Hb A
CHROMATOGRAPHY Hb X did not separate from Hb A by either cation or anion exchange HPLC
STRUCTURE STUDIES Separation of tryptic and chymotryptic peptides by reversed phase HPLC; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation GCC->ACC; alpha2 or alpha1
FUNCTIONAL STUDIES Slightly increased oxygen affinity
STABILITY Slightly unstable
OCCURRENCE Found in a Japanese male and his son
OTHER INFORMATION Quantity in the heterozygote about 14%
       
REFERENCES
1. Ohba, Y., Fujisawa, K., Imai, K., Leowattana, W., Tani, Y., Ami, M., and Miyaji, T.: Hemoglobin, 14:413, 1990.


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.