Hb Complutense beta127(H5)Gln->Glu
CONTACT alpha1beta1 contact
HEMATOLOGY Mild anemia in the heterozygote
ELECTROPHORESIS No separation with standard techniques
CHROMATOGRAPHY No separation by cation and anion exchange HPLC; betaX separates from betaA 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 CAG->GAG at codon 127
STABILITY Mildly unstable
OCCURRENCE Found in a few Spanish families
OTHER INFORMATION The Gln->Glu replacement at beta127 was first thought to be the abnormality in a Turkish family (Ref. 1); this erroneous characterization was corrected in 1986; the Turkish abnormality was renamed Hb J-Antakya with a beta65(E9)Lys->Met replacement (Ref. 2)
1. Altay, Ç., Altinöz, N., Wilson, J.B., Bolch, K.C., and Huisman, T.H.J.: Biochim. Biophys. Acta, 434:1, 1976.
2. Huisman, T.H.J., Wilson, J.B., Kutlar, A., Yang, K-G., Chen, S-S., Webber, B., Altay, Ç., and Villegas Martinez, A.: Biochim. Biophys. Acta, 871:229, 1986.
3. Villegas, A., Espinos, D., Calero, F., and Huisman, T.H.J.: Sangre, 32:382, 1987.

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.