In order to provide a rapid method for identifying α-thalassemia 1 in a region with massive population and limited resources, we have tested a rapid screening strategy. Preliminary screening was done using a modified onetube osmotic fragility test (OF test) followed by RBC indices; Hb analysis and detection of α-thalassemia 1 with the Southeast Asian deletion (SEA type) were performed by PCR. One hundred and seventy-five adult Thai subjects were studied. Fifty-one of the 175 subjects (29.1%) were positive for a modified OF test. They all had significantly lower MCV and MCH but higher RDW-CV values as compared to the OF negative group. A successful identification of α-thalassemia 1 deletion using a direct PCR on cell lysates was demonstrated. Among the 51 OF-test-positive subjects, 7 were found to be α-thalassemia 1 carriers, 3 of whom were also carriers of Hb E. No α-thalassemia 1 was detected in the OF-test-negative group. A combination of a modified OF test and a direct PCR analysis on whole blood cell lysates would therefore provide an effective screening for α-thalassemia 1 in the regions where a program of prevention and control of the disease remains underserved.

Fucharoen S, Winichagoon P: Hemoglobinopathies in Southeast Asia. Hemoglobin 1987;11:65–88.
Chui DHK, Waye JS: Hydrops fetalis caused by α-thalassemia: An emerging health care problem. Blood 1998;91:2213–2222.
Higgs DR, Vickers MA, Wilkie AOM, Pretorius IM, Jarman AP, Weatherall DJ: A review of the molecular genetics of the human alpha-globin gene cluster. Blood 1989;73:1081–1104.
Kattamis AC, Camascella C, Sivera P, Surrey S, Fortina P: Human α-thalassemia syndrome: Detection of molecular defects. Am J Hematol 1996;53:81–91.
Kattamis C, Efremov G, Pootrakul S: Effectiveness of one tube osmotic fragility test screening in detecting β-thalassemia trait. J Med Genet 1981;18:266–270.
Fucharoen S, Fucharoen G, Sriroongreung W, Laosombat V, Jetsrisuparb A, Prasatkaew S, Tanphaichitr VS, Suvatte V, Tuchinda S, Fukumaki Y: Molecular basis of β-thalassemia in Thailand: Analysis of β-globin gene mutations using the polymerase chain reaction. Hum Genet 1989;84:41–46.
Fucharoen G, Fucharoen S: Rapid and simultaneous non-radioactive method for detecting α-thalassemia 1 (SEA type) and Hb Constant Spring genes. Eur J Haematol 1994;53:186–187.
Sanchaisuriya K, Fucharoen G, Sae-ung N, Sae-ue N, Baisungneon R, Jetsrisuparb A, Fucharoen S: Molecular and hematological characterization of Hb E heterozygote with α-thalassemia determinant. Southeast Asian J Trop Med Public Health 1997;28(suppl 1):100–103.
Fucharoen S, Winichagoon P, Thonglairoam V, Siriboon W, Siritanaratkul N, Kanokpongsakde S, Vantanasiri C: Prenatal diagnosis of thalassemia and hemoglobinopathies in Thailand: Experience from 100 pregnancies. Southeast Asian J Trop Med Public Health 1991;22:16–29.
Fucharoen G, Fucharoen S, Wanhakit C, Srithong W: Molecular basis of αo-thalassemia in northeast of Thailand. Southeast Asian J Trop Med Pub Health 1995;26(suppl 1):246–248.
Chan LC, Chui DHK: Comparison of haemoglobin H inclusion bodies with embryonic ζ globin in screening for α thalassemia. J Clin Pathol 1995;48:861–864.
Lafferty JD, Crowther MA, Waya JS, Chui DHK: A reliable screening test to identify adult carriers of the (–SEA) alphao-thalassemia deletion. Am J Clin Pathol 2000;114:927–931.
Fucharoen G, Fucharoen S, Sae-ung N, Sanchaisuriya K: Hemoglobin E and thalassemia among Khon Kaen University population (in Thai). KKU Res J 2000;5:61–69.
Fucharoen G, Kanta K, Pratumchat R, Yimprasert U, Paikapet K, Surin U, Sesalone P, Sanchaisuriya K, Kitcharoen K, Sae-ung N, Fucharoen S: Thalassemia and iron deficiency among the OF test and KKU-DCIP-Clear screening positive population (in Thai). Thai J Hematol Trans Med 1999;9:111–118.
Frischer H, Bowman JE: Hemoglobin E, an oxidatively unstable mutation. J Lab Clin Med 1975;85:531–539.
The thalassemia working party of the BCSH general haematology task force. Guidelines for investigation of the α- and β-thalassemia traits. J Clin Pathol 1994;47:289–295.
Fucharoen G, Fucharoen S, Jetsrisuparb A, Fukumaki Y: Molecular basis of HbE-β-thalassemia and the origin of HbE in northeast Thailand: Identification of one novel mutation using amplified DNA from buffy coat specimen. Biochem Biophys Res Commun 1990;170:698–704.
Mercier B, Gaucher C, Feugeas O, Mazurier C: Direct PCR from whole blood without DNA extraction. Nucleic Acids Res 1990;18:5908.
Nordvag BY, Husby G, Raafat el-Gewaly M: Direct PCR of washed blood cells. Biotechniques 1992;12:490–493.
Nishimura N, Nakayama T, Tonoike H, Kojima K, Kato S: Direct polymerase chain reaction from whole blood without DNA isolation. Ann Clin Biochem 2000;37:674–680.
De Vries J, Wijnen P, Hamulyak K, Van Dieijen-Vesser MP, Bakers O: PCR on cell lysates obtained from whole blood circumvents DNA isolation. Clin Chem 2001;47:1701–1702.
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.