Authors: Srivorakun, Hataichanok; Fucharoen, Goonnapa¹; Sae-Ung, Nattaya¹; Sanchaisuriya, Kanokwan¹; Ratanasiri, Thawalwong²; Fucharoen, Supan¹

Source: European Journal of Haematology, Volume 83, Number 1, July 2009 , pp. 57-65(9)

Publisher: Wiley-Blackwell

Abstract:

Introduction: 

Prenatal diagnosis of severe α- and β-thalasssemia diseases is usually performed by DNA analysis. Objective: 

To establish a simple method, we have evaluated the reliability of prenatal diagnosis by fetal blood analysis using automated capillary electrophoresis system. Methods: 

Forty-seven fetal blood specimens collected by cordocentesis at 18-28 wk of gestation were analyzed by the capillary electrophoresis system (Sebia). Fetal DNA was analyzed for respective thalassemia alleles by PCR. Results: 

Among 47 fetuses, 20 were at risk for the Hb Bart's hydrops fetalis. DNA analysis identified four cases of homozygous α°-thalassemia (SEA type). Hb analysis by the capillary electrophoresis demonstrated a major peak of Hb Bart's (78.4-81.3%), Hb H (0.8-1.4%) and minor peaks of presumably embryonic Hbs. No Hb F and Hb A was observed. The level of Hb Bart's was found to be 3.4-5.8% in unaffected heterozygote whereas normal fetus had no Hb Bart's. Among the remaining 27 fetuses at risk for Hb E-β-thalassemia, DNA analysis identified 12 affected fetuses. Hb analysis showed Hb F (94.9-98.9%) and Hb E (1.1-1.8%) without Hb A in all cases. The levels of Hb A were found to be (4.3-7.2%), (1.0-5.5%) and (2.1-3.9%) in normal, heterozygous Hb E and heterozygous β-thalassemia fetuses, respectively. Affected and unaffected fetuses could be easily distinguished. Conclusion: 

Capillary electrophoresis system is a simple and automated procedure for accurate prenatal diagnosis of severe thalassemia diseases which could readily be performed in routine setting.

Keywords: fetal blood; thalassemia; prenatal diagnosis; capillary electrophoresis

Document Type: Research article

DOI: http://dx.doi.org/10.1111/j.1600-0609.2009.01245.x

Affiliations: 1: Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences 2: Department of Obstetrics and Gynecology, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand

Publication date: 2009-07-01

Related content

• In this: publication
• By this: publisher
• In this Subject: Pathology
• By this author: Srivorakun, Hataichanok ;  Fucharoen, Goonnapa ;  Sae-Ung, Nattaya ;  Sanchaisuriya, Kanokwan ;  Ratanasiri, Thawalwong ;  Fucharoen, Supan

Website © Publishing Technology. Article copyright remains with the publisher, society or author(s) as specified within the article.

• Terms and conditions
• Privacy policy
• Information for advertisers