Hb G-Waimanalo alpha64(E13)Asp->Asn
         
ALSO KNOWN AS Aida
CONTACT External
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X and Hb A separate at alkaline pH; Hb X moves slower than Hb A on starch gel
CHROMATOGRAPHY Hb X can be isolated on a DEAE-Sephadex column
STRUCTURE STUDIES Tryptic digestion; separation of peptides by fingerprinting on paper and on a reversed phase HPLC column; amino acid analysis; sequencing
DNA ANALYSES Mutation in the alpha2 gene: GAC->AAC at codon 64 (Ref. 6)
FUNCTIONAL STUDIES Normal oxygen affinity
STABILITY Normal
OCCURRENCE Found in Filipino, Indian, and Rumanian families
OTHER INFORMATION Quantity in heterozygotes 20-22%; found in combination with beta-thal, and with Hb D-Los Angeles
       
REFERENCES
1. Blackwell, R.Q., Jim, R.T.S., Tan, T.G.H., Weng, M-I., Liu, C-S., and Wang, C-L.: Biochim. Biophys. Acta, 322:27, 1973.
2. Bunn, H.F., Altman, A.J., Stangland, K., Firshein, S.I., Forget, B., Schmidt, G.J., and Jones, R.T.: Hemoglobin, 2:531, 1978.
3. Baine, R.M., Wright, J.M., and Wilkinson, R.W.: Hemoglobin, 3:293, 1979.
4. Harano, T., Harano, K., Ueda, S., Shibata, S., and Imai, K.: Hemoglobin, 5:591, 1981.
5. Manca, L., Masala, B., Manca, M., Ferranti, P., and Pucci, P.: Hemoglobin, 18: 53, 1994.
6. Landin, B. and Berg, A.: Hemoglobin, 18:71, 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.