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Automated HPLC in Prenatal Diagnosis of Thalassemia

Application of Automated HPLC in Prenatal Diagnosis of Thalassemia

PRANEE WINICHAGOON, RUNGRAT SRIPHANICH, BUSARA SAE-NGOW, JEW CHOWTHAWORN, PORNPEN TANTISIRIN, SUJIN KANOKPONGSAKDI, SUTHAT FUCHAROEN, PRAWASE WASI

Laboratory Hematology 8:29-35
© 2002 Carden Jennings Publishing Co., Ltd.

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 highrisk 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 βo-thalassemia and βo-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 βo-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.

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sm_cjpLogo.gifCopyright 1995-2010 - Carden Jennings Publishing Co., Ltd. All rights reserved. The material available at this site is for educational purposes only and is NOT intended for any diagnostic, clinically related, or other purpose. Carden Jennings Publishing Co., Ltd., assumes no responsibility for any use or misuse of this material and makes no warranty or representation of any kind with respect to the material available at this site.

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