Hb Ozieri	alpha71(E20)Ala->Val

CONTACT		External
HEMATOLOGY		Normal in the heterozygote
ELECTROPHORESIS		This silent variant migrates as a band slightly anodal to Hb A and Hb F by IEF with an ultra narrow pH gradient
CHROMATOGRAPHY		Not reported
STRUCTURE STUDIES		Hb X was characterized by combining FAB mass spectrometry with electrospray spectrometry
DNA ANALYSES		Not reported; presumed mutation GCG->GTG; alpha2 or alpha1
FUNCTIONAL STUDIES		Not reported
STABILITY		Not reported
OCCURRENCE		Found in several unrelated Sardinian newborn babies and their parents
OTHER INFORMATION		Quantity in adult heterozygotes 27.1 ± 4.8%

REFERENCES
1.		Ferranti, P., Parlapiano, A., Malorni, A., Pucci, P., Marino, G., Cossu, G., Manca, L., and Masala, B.: Biochim. Biophys. Acta, 1162:203, 1993.

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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.