Hemoglobin (Hb) Bart’s hydrops fetalis is a fatal condition associated with homozygous α⁰-thalassemia. Prenatal diagnosis of the disease is usually done by gap-PCR; however, misdiagnosis can occur with allelic dropout. Diagnosis using more than one method is preferred. We describe a double-check PCR assay for accurate prenatal diagnosis. The study was conducted on 64 fetuses at risk of homozygous α⁰-thalassemia encountered at our routine thalassemia diagnosis laboratory. Chorionic villus sample (CVS), amniotic fluid or fetal blood specimens were obtained from pregnant women at risk and analyzed by two PCR methods. In the first method, the SEA α⁰-thalassemia deletion of parents and fetuses were determined by gap-PCR routinely run in our laboratory. In another method, two specific fragments located 5′ to the ζ2 gene (Xba I fragment) and the α2-globin gene (Rsa I fragment) together with the gap-PCR fragment were multiply co-amplified to determine the presence or absence of normal and α⁰-thalassemia alleles. The molecular diagnosis of α⁰-thalassemia was possible in all 64 fetuses using the two PCR approaches. The final diagnoses included 13 normal, 29 unaffected heterozygote and 22 homozygote α⁰-thalassemia fetuses.The two PCR assays disclosed no discordant result in the diagnosis of the Hb Bart’s hydrops fetalis caused by α⁰-thalassemia.The combined PCR assay for gap-PCR, ζ2 Xba I and α2 Rsa I fragments, described here, is simple, accurate and applicable in the prenatal diagnosis of Hb Bart’s hydrops fetalis in a routine setting.

Keywords:
Hemoglobin Bart’s hydrops fetalis, Prenatal diagnosis, Multiplex PCR, α0-Thalassemia
© 2009 S. Karger AG, Basel
2009
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.