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- Title
Direct Amplification of Whole Blood and Amniotic Fluid Specimens for Prenatal and Postnatal Diagnosis of Hb E-β <sup>0</sup>-Thalassemia Diseases.
- Authors
Wichian, Phongsathorn; Yamsri, Supawadee; Sanchaisuriya, Kanokwan; Fucharoen, Supan
- Abstract
Objective Prenatal and postnatal diagnosis of hemoglobin E-β 0-thalassemia can be made using polymerase chain reaction (PCR) analysis mostly on purified DNA. We have establihed a direct amplification method without DNA extraction on whole blood (WB) and amniotic fluid (AF) specimens to diagnose the disease. Methods Three reactions of WB PCR assays and 7 reactions of AF PCR tests were developed for postnatal and prenatal diagnosis, respectively. Assays were validated against routine tests in a blinded trial. Results The results showed 100% concordance with routine DNA PCR assays. Among 309 β-thalassemia carriers, 191 patients (61.8%) carried common β-thalassemia mutations. Among 448 AF specimens, 116 (25.9%) fetuses were found to be affected, 247 (55.1%) fetuses were carriers, and 85 (19%) fetuses were unaffected. Conclusion We found that WB and AF PCR assays are simple, rapid, and reliable. The developed techniques could be applicable in routine settings.
- Subjects
THAILAND; BLOOD; GENETIC mutation; PRENATAL diagnosis; AMNIOTIC liquid; SEVERITY of illness index; PUERPERIUM; RESEARCH funding; DESCRIPTIVE statistics; GENOTYPES; CARRIER state (Communicable diseases); POLYMERASE chain reaction; COLLECTION &; preservation of biological specimens; BETA-Thalassemia
- Publication
Laboratory Medicine, 2021, Vol 52, Issue 5, p460
- ISSN
0007-5027
- Publication type
Article
- DOI
10.1093/labmed/lmaa117