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

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.