Hb Koriyama Leu-His-Cys-Asp-Lys- inserted between
beta95(FG2)Lys and beta96(FG3)Leu
         
HEMATOLOGY Severe chronic hemolytic anemia; blood transfusion dependent; splenectomized; reticulocytosis
ELECTROPHORESIS Minor band (1.5%) near Hb A in cellulose acetate electrophoresis; a minor band near Hb F in IEF; data not very reproducible
CHROMATOGRAPHY Minor betaX chain elutes behind betaA in CM-cellulose chromatography (reticulocytes incubated with 3H-leucine; betaX identified as a minor zone with high activity)
STRUCTURE STUDIES Tryptic digestion of AE-betaX chain (radioactive); separation of peptides by reversed phase HPLC; amino acid analysis; radio sequencing
DNA ANALYSES Not reported; frameshift mutagenesis is suggested
FUNCTION STUDIES Not possible
STABILITY Severely unstable
OCCURRENCE Found in a Japanese girl, but her parents are normal
OTHER INFORMATION The insertion is identical to the deletion seen in Hb Gun Hill; it is referred to as the anti-Gun Hill insertion
       
REFERENCES
1. Kawata, R., Ohba, Y., Yamamoto, K., Miyaji, T., Makita, R., Ohga, K., Watanabe, S., and Miwa, S.: Hemoglobin, 12:311, 1988


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.