Hb Castilla	beta32(B14)Leu->Arg

CONTACT		Internal
HEMATOLOGY		Hemolytic anemia with reticulocytosis in the heterozygote; Heinz bodies
ELECTROPHORESIS		Hb X and Hb A can be separated at alkaline pH; Hb X moves to the position of Hb S
CHROMATOGRAPHY		Not performed
STRUCTURE STUDIES		The betaX chain was isolated with pCMB; tryptic digestion; fingerprinting; amino acid analysis
DNA ANALYSES		Not reported; presumed mutation CTG->CGG at codon 32
FUNCTION STUDIES		Not performed
STABILITY		Unstable
OCCURRENCE		Found in a Spanish female
OTHER INFORMATION		A de novo mutation; quantity in the heterozygote ~22%

REFERENCES
1.		Garel, M.C., Blouquit, Y., and Rosa, J.: FEBS Lett., 58:145, 1975.

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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.