Hb Valletta beta87(F3)Thr->Pro
         
CONTACT External
HEMATOLOGY Normal in the heterozygote
ELECTROPHORESIS Hb X was detected by IEF; Hb X moves between Hb S and Hb C
CHROMATOGRAPHY The betaX chain elutes ahead of betaA in reversed phase HPLC
STRUCTURE STUDIES Tryptic digestion; separation of peptides by reversed phase HPLC; amino acid analysis
DNA ANALYSES An ACA->CCA mutation at codon 87
FUNCTION STUDIES Not reported
STABILITY Normal
OCCURRENCE Found in many Maltese newborn babies and their parents, and also in some Italian newborn babies
OTHER INFORMATION Ratio of Hb Valletta to Hb A in the newborn is 50:50; the Hb Valletta mutation occurs linked to the Hb F-Malta-I mutation (i.e. CAT->CGT) at codon 117 of the Ggamma gene (the two mutations are 27-28 kb apart)
       
REFERENCES
1. Kutlar, F., Felice, A.E., Grech, J.L., Bannister, W.H., Kutlar, A., Wilson, J.B., Webber, B.B. Hu, H. , and Huisman, T.H.J.: Hum. Genet., 86:591, 1991.


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.