Hb Extremadura	beta133(H11)Val->Leu

CONTACT		Internal
HEMATOLOGY		Mild hemolytic anemia with splenomegaly; Heinz bodies; reticulocytosis
ELECTROPHORESIS		No separation reported
CHROMATOGRAPHY		No separation reported; the betaX and betaA chains separate by reversed phase HPLC; (elution order: betaA, betaX, alpha)
STRUCTURE STUDIES		Tryptic digestion of betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing
DNA ANALYSES		Not reported; presumed mutation GTG->CTG at codon 133
FUNCTION STUDIES		Not reported
STABILITY		Slightly unstable
OCCURRENCE		Found as a de novo mutation in a 27-year-old Spanish female
OTHER INFORMATION		Quantity in the heterozygote ~38% (reversed phase HPLC)

REFERENCES
1.		Villegas, A., Martín, G., Wilson, J.B., Webber, B.B., Hu, H., Kutlar, A., Kutlar, F., and Huisman, T.H.J.: Hemoglobin, 13:505, 1989.

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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.