Hb Ohio beta142(H20)Ala->Asp
CONTACT External; central cavity; 2,3-DPG pocket
HEMATOLOGY Erythrocytosis in the heterozygote (PCV 0.54-0.58 l/l)
ELECTROPHORESIS Hb X and Hb A can be separated at alkaline pH; Hb X moves faster than Hb A; Hb X moves between Hb A and Hb F at acidic pH
CHROMATOGRAPHY Hb X was isolated on a DEAE-Sephadex column
STRUCTURE STUDIES Tryptic digestion; separation of peptides by fingerprinting and cation exchange chromatography; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation GCC->GAC at codon 142
FUNCTION STUDIES Increased oxygen affinity; reduced Bohr effect and cooperativity
OCCURRENCE Found in three members of a Caucasian family of Scottish-English ancestry
OTHER INFORMATION Quantity in the heterozygote 47.7%
1. Moo-Penn, W.F., Schneider, R.G., Shih, T-B., Jones, R.T., Govindarajan, S., Govindarajan, P.G., and Patchen, L.C.: Blood, 56:246, 1980.

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.