Hb Saitama beta117(G19)His->Pro
CONTACT External
HEMATOLOGY Unstable Hb hemolytic anemia in the heterozygote
ELECTROPHORESIS No separation reported
CHROMATOGRAPHY No separation reported
STRUCTURE STUDIES Hb X isolated by pCMB; alpha and beta chains separated by CM-cellulose chromatography; tryptic digestion of betaX chain; separation of peptides by fingerprinting; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation CAC->CCC at codon 117
FUNCTION STUDIES Decreased oxygen affinity; increased 2,3-DPG level
OCCURRENCE Found in a 23-year-old Japanese female, but not in her parents or other members of her family
OTHER INFORMATION Quantity in the heterozygote not reported
1. Ohba, Y., Hasegawa, Y., Amino, H., Miwa, S., Nakatsuji, T., Hattori, Y., and Miyaji, T.: Hemoglobin, 7:47, 1983.

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.