| Title of Article |
Direct PCR assays without DNA extraction for rapid detection of Hemoglobin Constant Spring and Paksé Genes: application for carrier screening and prenatal diagnosis |
| Date of Acceptance |
21 August 2021 |
| Journal |
| Title of Journal |
The Scandinavian Journal of Clinical & Laboratory Investigation |
| Standard |
SCOPUS |
| Institute of Journal |
Taylor & Francis |
| ISBN/ISSN |
- |
| Volume |
- |
| Issue |
- |
| Month |
- |
| Year of Publication |
2021 |
| Page |
- |
| Abstract |
Hemoglobin Constant Spring (Hb CS) and Hb Paksé (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 CS and PS genes. Multiplex direct PCR assays for identifying the Hb CS and PS genes in whole blood (WB) and amniotic fluid (AF) specimens were developed. The assays were firstly validated on 290 unrelated whole blood specimens. Hb CS and PS carriers were identified in 67 (23.1%) and 6 (2.1%) cases, respectively. A 100% concordant result as compared to routine PCR assay was observed. The direct PCR assays have been applied successfully for prenatal diagnosis in two families. The result showed that the fetuses were affected by homozygous Hb CS and compound heterozygous Hb CS/Hb PS. Accurate prenatal diagnosis of these families was observed using the newly developed assays. These assays should be applicable in routine thalassemia diagnostics as well as in a large-scale screening of Hb CS and PS in the region. |
| Keyword |
Direct PCR; Rapid Diagnosis; Hb Constant Spring; Hb Paksé, Whole blood, Amniotic fluid |
| Author |
|
| Reviewing Status |
มีผู้ประเมินอิสระ |
| Status |
ได้รับการตอบรับให้ตีพิมพ์ |
| Level of Publication |
นานาชาติ |
| citation |
true |
| Part of thesis |
true |
| Attach file |
|
| Citation |
0
|
|
|
Publication
Journal Publication
ไทย