Article
Direct PCR assays without DNA extraction for rapid detection of hemoglobin Constant Spring and Pakse' genes: application for carrier screening and prenatal diagnosis.
Scandinavian journal of clinical and laboratory investigation - 1 Nov 2021
Wichian Phongsathorn, Yamsri Supawadee, Chaibunruang Attawut, KerdKaew Cholthicha, Thongsee Dhanawan, Srivorakun Hataichanok, Fucharoen Supan
Abstract excerpt
Hemoglobin Constant Spring (Hb CS) and Hb Pakse' (PS) are the common non-deletional α+-thalassemia found in Thailand. These two variants can cause severe thalassemia syndromes, especially in fetus and neonate. Molecular diagnosis is the only confirmatory method because Hb CS and Hb PS are usually missed by routine screening and Hb analysis. Therefore, we aimed to develop rapid direct PCR for the diagnosis of Hb...
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