Hb J-Meerut alpha120(H3)Ala->Glu
         
ALSO KNOWN AS J-Birmingham
CONTACT External
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X moves to the position of Hb J at alkaline pH; excellent separation by IEF
CHROMATOGRAPHY Hb X and Hb A separate in cation and anion exchange chromatography
STRUCTURE STUDIES Tryptic digestion; separation of peptides by fingerprinting; reversed phase HPLC; amino acid analysis; sequencing
DNA ANALYSES A GCG->GAG mutation has been found in codon 120 of both the alpha2 and alpha1 genes (Ref. 5)
FUNCTIONAL STUDIES Not reported
STABILITY Stable
OCCURRENCE Found in an Indian family and in families from Japan and Turkey
OTHER INFORMATION Quantity for alpha2 heterozygotes was 23%, and 19.7% for an alpha1 heterozygote (Ref. 5)
       
REFERENCES
1. Blackwell, R.Q., Wong, H.B., Wang, C-L., Weng, M-I., and Liu, C-S.: Biochim. Biophys. Acta, 351:7, 1974.
2. Kamuzora, H., Lehmann, H., Griffiths, K.D., Mann, J.R., and Raine, D.N.: Ann. Clin. Biochem., 11:53, 1974.
3. Harano, T., Harano, K., Imai, K., Yunoki, H., Yagi, H., Nagashima, K., and Kuroume, T.: Hemoglobin, 13:169, 1989.
4. Yalçin, A., Avcu, F., Beyan, C., Gürgey, A., and Ural, A.U.: Hemoglobin, 18:433, 1994.
5. Molchanova, T.P., Pobedimskaya, D.D., and Huisman, T.H.J.: Br. J. Haematol., 88:300, 1994.


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.