Hb Galicia Deletion of His-Val- at beta97, beta98;
insertion of Leu-
         
HEMATOLOGY Severe hemolytic anemia; reticulocytosis; Heinz bodies
ELECTROPHORESIS Hb X moves slightly faster than Hb A2 in IEF
CHROMATOGRAPHY Hb X can be isolated by DEAE-cellulose chromatography; the betaX chain separates from the other chains by reversed phase HPLC (elution order: betaA, alpha, betaX, Ggamma, Agamma)
STRUCTURE STUDIES Tryptic digestion of betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing
DNA ANALYSES Deletion of ACG at codons 97 and 98 causes removal of His and Val; remaining three nts form codon CTG (= Leu)
FUNCTION STUDIES Not done
STABILITY Unstable
OCCURRENCE Found in a Spanish patient
OTHER INFORMATION Quantity in the heterozygote ~26-27%
       
REFERENCES
1. Wilson, J.B., Webber, B.B., Hu, H., Kutlar, A., Kutlar, F., Codrington, J.F., Prchal, J.T., Hall, K.M., de Pablos, J.Ma., Rodriguez, I., and Huisman, T.H.J.: Blood, 75: 1883, 1990.


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.