Hb Cagliari	beta60(E4)Val->Glu

CONTACT		Internal
HEMATOLOGY		Hemolytic anemia; microcytosis; hypochromia; thalassemia intermedia
ELECTROPHORESIS		No abnormal Hb was detected
CHROMATOGRAPHY		No abnormal Hb was detected
STRUCTURE STUDIES		Not possible; identification was by DNA analysis
DNA ANALYSES		A GTG->GAG mutation at codon 60
FUNCTION STUDIES		Not possible
STABILITY		Highly unstable
OCCURRENCE		Found in an Italian child; no abnormalities in the parents
OTHER INFORMATION		The variant is highly unstable and is rapidly broken down resulting in a high Hb F level and reduced beta/alpha in vitro chain synthesis ratio; splenectomy improved the condition considerably

REFERENCES
1.		Podda, A., Galanello, R., Maccioni, L., Melis, M.A., Rosatelli, C., Perseu, L., and Cao, A.: Blood, 77:371, 1991.

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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.