Hb Hofu beta126(H4)Val->Glu
         
CONTACT External
HEMATOLOGY Normal or mild anemia in the heterozygote
ELECTROPHORESIS Hb X and Hb A separate at alkaline pH; Hb X moves faster than Hb A
CHROMATOGRAPHY Hb X was isolated by DEAE-cellulose or DEAE-Sephadex chromatography; partial separation by cation exchange HPLC; the betaX and betaA chains separate by reversed phase HPLC (elution order: betaX, betaA, alpha)
STRUCTURE STUDIES Tryptic digestion of AE-betaX chain; separation of peptides by fingerprinting or cation exchange chromatography; amino acid analysis
DNA ANALYSES A GTG->GAG mutation at codon 126 (Ref. 5)
FUNCTION STUDIES Not reported
STABILITY Mildly unstable
OCCURRENCE Found in Japanese, Indian, Black, and Spanish families
OTHER INFORMATION Quantity in the heterozygote 28-31%; found in combination with Hb S and with betao-thal
       
REFERENCES
1. Miyaji, T., Ohba, Y., Yamamoto, K., Shibata, S., Iuchi, I., and Takenaka, H.: Nature, 217:89, 1968.
2. Brittenham, G., Lozoff, B., Harris, J.W., Nayudu, N.V.S., Gravely, M., Wilson, J.B., Lam, H., and Huisman, T.H.J.: Hemoglobin, 2:541, 1978.
3. Russo, F.M., John, M.E., Walterman, M.R., Simon, L.M., and Sheehan, R.G.: Hemoglobin, 3:83, 1979.
4. Arends, T., Garlin, G., Guevara I., J.M., Amesty, C., Perez-Bandez, O., Lorkin, P.A., Lehmann, H., and Castillo, O.: Acta Haematol., 73:51, 1985.
5. Pande, P.L., Prakash, S., Tiwary, R.S., Kazanetz, E.G., Leonova, J.Ye., and Huisman, T.H.J.: Hemoglobin, 19:301, 1995.


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.