Hb Matsue-Oki alpha75(EF4)Asp->Asn
CONTACT External
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X moves like Hb S on cellulose acetate and starch gel at alkaline pH; slightly slower than Hb A at acidic pH on citrate agar
CHROMATOGRAPHY Hb A and Hb X can be separated by anion exchange HPLC
STRUCTURE STUDIES Tryptic digestion; separation of peptides by fingerprinting; reversed phase HPLC; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation GAC->AAC; alpha2 or alpha1
FUNCTIONAL STUDIES Normal oxygen affinity, Bohr effect, and cooperativity
OCCURRENCE Found in a few Japanese and Black families
OTHER INFORMATION Quantity in heterozygotes 12-24%; Hb M-O occurred in one Black family together with Hb G-Philadelphia [alpha68(E17)Asn->Lys] that is linked to alpha-thal-2 (-3.7 kb). In one child both alpha chain variants (plus an alpha-thal-2 heterozygosity) and Hb A occurred together; this is a second observation of two alpha chain variants and normal alphaA in one individual, again supporting duplication of the alpha locus. The quantities in this child were 58% Hb G + Hb M-O and 42% Hb A (Ref. 3).
1. Ohba, Y., Miyaji, T., Matsuoka, M., Takeda, I., Fukuba, Y., Shibata, S., and Ohkura, K.: Hemoglobin, 1:383, 1977.
2. Moo-Penn, W.F., Johnson, M.H., and Therrell, B.L., Jr.: Hemoglobin, 2:71, 1978.
3. Zeng, Y-T., Headlee, M.E., Henson, J., Lam, H., Wilson, J.B., and Huisman, T.H.J.: Biochim. Biophys. Acta, 707:206, 1982.

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.