Genotypes and phenotypes were studied in 31 Turkish HbS-β-thalassemia patients. In 19 patients the β-thalassemia mutations were β+ and in 12 the β° phenotype. The IVSI-110 mutation was found in 45% of the patients. IVSI-1, β39, IVSII-1 and FSC8 are the genotypes associated with β°-thalassemia. Hematological data were evaluated at the time of diagnosis and 4 years after diagnosis. The mean HbF value was 13 ± 7.8% at diagnosis and 9.7 ± 7.8% 4 years later. A significant negative correlation was observed between the age of the patients and the HbF value (p < 0.05). No statistically significant differences were observed between the mean of hematological parameters in β+- and β°-thalassemia patients except for the mean HbF value which were 10.7 ± 6.9 and 15.9 ± 7.7% in β+- and β°-thalassemia, respectively (p < 0.05). The study indicated that β-thalassemia mutations in trans to the HbS mutation do not exert any beneficial effect on the manifestation of the disease.

Keywords:
Sickle cell, Beta-thalassemia mutations, Sickle cell beta-thalassemia
This content is only available via PDF.
© 1997 S. Karger AG, Basel
1997
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.