Human Heredity
Genetic Patterns in Thalassemia Intermedia (Constitutional Microcytic Anemia)Familial, Hematologic and Biosynthetic Studies Center of Microcytemia of Rome, Institute of Hygiene, University of Rome, Rome
|
|
Log in to MyKarger to check if you already have access to this content.
KAB
Buy a Karger Article Bundle (KAB) and profit from a discount!
If you would like to redeem your KAB credit, please log in.
Save over 20% compared to the individual article price.
Article / Publication Details
Published online: August 28, 2008
Issue release date: 1977
Number of Print Pages: 16
Number of Figures: 0
Number of Tables: 0
ISSN: 0001-5652 (Print)
eISSN: 1423-0062 (Online)
For additional information: https://www.karger.com/HHE
Abstract
Globin chain synthesis has been studied in 17 patients with thalassemia intermedia, and their relatives, also investigated by routine hematologic and hemoglobinic tests. The mean α/non α ratio was always around 2.20–2.30. In patients with severe thalassemia major, used as a control, the mean α/non a ratio was significantly higher, that is 3.11–3.07. Therefore, the hypothesis that the cause of the lesser severity of the thalassemia intermedia is a lesser imbalance of globin chain synthesis, is suggested. One or both the parents of patients with thalassemia intermedia have mild β-thalassemia and normal α/βratio, whereas the parents of patients with severe thalassemia major show a marked β-thalassemia and a mean α/β ratio of 1.76. These data suggest that genes for β+-thalassemia are responsible for thalassemia intermedia, and genes for β°-thalassemia are responsible for thalassemia major. In two patients with thalassemia intermedia, the association of an α-thalassemia gene with homozygous β-thalassemia that it is well known to reduce the globin chain imbalance typical of the β-thalassemia, has also been observed.
© 1977 S. Karger AG, Basel
Related Articles:
Article / Publication Details
Published online: August 28, 2008
Issue release date: 1977
Number of Print Pages: 16
Number of Figures: 0
Number of Tables: 0
ISSN: 0001-5652 (Print)
eISSN: 1423-0062 (Online)
For additional information: https://www.karger.com/HHE
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.
Get Permission
PubMed ID
