Hb Villeparisis beta77(EF1)His->Tyr;
beta80(EF4)Asn->Ser
         
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X moves very close to Hb A at alkaline pH and has a lower pI than Hb A
CHROMATOGRAPHY Not reported
STRUCTURE STUDIES The betaX and betaA chains separate by reversed phase HPLC; tryptic digestion of AE-betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis; mass spectrometry
DNA ANALYSES Not reported; presumed mutations CAC->TAC and AAC->AGC at codons 77 and 80
FUNCTION STUDIES Not reported
STABILITY Not reported
OCCURRENCE Found in a French male
OTHER INFORMATION The beta77 His->Tyr replacement is specific for Hb Fukuyama
       
REFERENCES
1. Wajcman, H., Promé, D., Blouquit, Y., Riou, J., Préhu, C., Bardakdjian, J., and Galacteros, F.: Br. J. Haematol., 87:65 (Suppl. 1), 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.