Multiplex recombinase polymerase amplification (RPA) assay for carrier detection and prenatal diagnosis of α0-thalassemia (SEA and THAI deletions).

Journal: Scandinavian Journal Of Clinical And Laboratory Investigation
Published:
Abstract

Hemoglobin Bart's hydrops fetalis is the most severe form of α-thalassemia, caused by homozygous α0-thalassemia, which is highly prevalent in Southeast Asian countries. Simple and rapid identification of α0-thalassemia carrier and prenatal diagnosis of Hemoglobin Bart's hydrops is essential in the region. We have developed a multiplex RPA assay for simple detection of α0-thalassemia (SEA and THAI deletions) and tested it in carrier detection (n = 125) and prenatal diagnosis of Hb Bart's hydrops fetalis syndrome (n = 30). The sensitivity, specificity, positive predictive value, and negative predictive value for detecting α0-thalassemia carriers were 100% for both SEA and THAI deletions. The assay correctly identified 42 carriers of α0-thalassemia (SEA deletion), 4 carriers of α0-thalassemia (THAI deletion), and 79 non-carriers. For prenatal diagnosis, the results of RPA revealed a 100% concordance (30/30) with the conventional gap-PCR analysis. The multiplex RPA assay is a rapid, reliable, and cost-effective method for diagnosing α0-thalassemia-related disorders in routine clinical settings. This assay has the potential to significantly contribute to the prevention and control of Hb Bart's hydrops fetalis in the region.

Authors
Yanisa Sitthisophonkamjorn, Simaporn Prommetta, Attawut Chaibunruang, Hataichanok Srivorakun, Supan Fucharoen, Supawadee Yamsri