Hb Las Palmas beta49(CD8)Ser->Phe
         
CONTACT External
HEMATOLOGY Normal in the heterozygote; mild reticulocytosis
ELECTROPHORESIS No separation by standard techniques; the betaX and betaA chains separate by PAGE
CHROMATOGRAPHY No separation by cation or anion exchange HPLC; the betaX and betaA chains separate in reversed phase HPLC; betaX elutes very slowly behind alpha (betaA, alpha, betaX)
STRUCTURE STUDIES Tryptic digestion of betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation TCC->TTC at codon 49
FUNCTION STUDIES Not determined
STABILITY Slightly unstable
OCCURRENCE Found in two members of a family from the Canary Islands, Spain
OTHER INFORMATION Quantity in the heterozygote 43-45%
       
REFERENCES
1. Malcorra-Azpiazu, J.J., Balda-Aguirre, M.I., Diaz-Chico, J.C., Hu, H., Wilson, J.B., Webber, B.B., Kutlar, F., Kutlar, A., and Huisman, T.H.J.: Hemoglobin, 12:163, 1988.


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.