12 thalassaemic patients from Northern Sardinia showing the β+ phenotype were examined by isoelectric focusing and high-performance liquid chromatography techniques for the determination of the variant AγT globin chain of the foetal haemoglobin. Two patients (16.7%) were homozygotes for the AγT gene variant, 2 (16.7%) were heterozygotes and 8 (66.7%) were homozygotes for the normal AγT allele. The AγT gene frequency was 0.183, much lower than the observed 0.823 in β° homozygosity. These data suggest the presence of at least 2 β+ -thalassaemic chromosomes in Sardinians, one associated with the variant AγT allele and one associated with the normal AγI. The latter is prevalent among adult patients showing the intermediate form of the thalassaemic disease, which is not transfusion-dependent.

Keywords:
γ-Globin, Hb F, Hb F Sardinia, Polymorphism, Thalassaemia intermedia, β+-Thalassaemia
This content is only available via PDF.
© 1986 S. Karger AG, Basel
1986
Copyright / Drug Dosage / Disclaimer
Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.
You do not currently have access to this content.