Publication: Application of automated HPLC in prenatal diagnosis of Thalassemia
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Issued Date
2002-01-01
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10802924
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2-s2.0-0036119417
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Mahidol University
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SCOPUS
Bibliographic Citation
Laboratory Hematology. Vol.8, No.1 (2002), 29-35
Suggested Citation
Pranee Winichagoon, Rungrat Sriphanich, Busara Sae-Ngow, Jew Chowthaworn, Pornpen Tantisirin, Sujin Kanokpongsakdi, Suthat Fucharoen, Prawase Wasi Application of automated HPLC in prenatal diagnosis of Thalassemia. Laboratory Hematology. Vol.8, No.1 (2002), 29-35. Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/20551
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Title
Application of automated HPLC in prenatal diagnosis of Thalassemia
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Abstract
Thalassemia syndromes and abnormal hemoglobins (Hbs), a group of autosomal recessive inherited disorders, are prevalent in Thailand. Measures for prevention and control of thalassemia include screening for the carriers, genetic counseling, and prenatal diagnosis (PND) in high-risk couples. PND may be carried out by analysis of either fetal blood or fetal tissue samples such as chorionic villi or amniotic fluid fibroblasts. Hb analysis of fetal blood by automated high-performance liquid chromatography (HPLC) has been recently applied for PND of many thalassemia syndromes. In this study, we used automated HPLC (VARIANT-Beta-Thalassemia Short Program; Bio-Rad, Hercules, CA) to carry out PND using fetal blood samples obtained by cordocentesis from fetuses at risk for severe thalassemic diseases including homozygous β-thalassemia, β-thalassemia/Hb E, and Hb Bart's hydrops fetalis. Hb types determined using HPLC were compared with those obtained using DNA analyses. The Hb molecules of fetuses at risk for β-thalassemic diseases in Thailand were divided into 4 groups: Hb F, Hb FA, Hb A2(E) F, and Hb A2(E) FA. Homozygous β°-thalassemia and β°-thalassemia/Hb E have Hb F and Hb E and Hb F, respectively. These 2 disorders can be easily diagnosed by HPLC because they are characterized by the absence of Hb A in the fetal cord blood. However, cases with β+-thalassemia produce small amounts of Hb A (0.5%-1%) and can be misdiagnosed as thalassemia carriers. Moreover, the HPLC system may not differentiate β°-thalassemia/Hb E from homozygous Hb E because both conditions have Hb type A2(E)+F without Hb A, and the amount of Hb A2(E) may overlap. Cases in which the presence of Hb A is detected in cord blood (Hb type FA) at 16 to 24 weeks gestation can be normal fetuses, β-thalassemia heterozygotes, or have β+-thalassemia syndrome. The pattern of the chromatogram obtained by this automated HPLC is also very specific for Hb Bart's hydrops fetalis, which makes the diagnosis simple, reliable, and inexpensive.