Hb Rancho Mirage beta143(H21)His->Asp
CONTACT External; central cavity; 2,3-DPG binding site
HEMATOLOGY Mild anemia in the heterozygote (PCV 0.30 l/l)
ELECTROPHORESIS Hb X and Hb A separate at alkaline pH; Hb X moves faster than Hb A; Hb X moves like Hb F at acidic pH
CHROMATOGRAPHY No data presented; the betaX and betaA chains can be separated by CM-cellulose chromatography
STRUCTURE STUDIES Tryptic digestion of betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation CAC->GAC at codon 143
FUNCTION STUDIES Increased oxygen affinity; normal in the presence of 2,3-DPG; decreased cooperativity; decreased alkaline Bohr effect
OCCURRENCE Found in a 17-year-old male
OTHER INFORMATION Quantity in the heterozygote ~53%
1. Moo-Penn, W.F., Hine, T.K., Johnson, M.H., Jue, D.L., Holland, S., George, S., Pierce, A.M., Michalski, L.A., and McDonald, M.J.: Hemoglobin, 16:35, 1992.

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.