Document Type : Review Articles
Authors
1
ksa , ministry of health , King Abdullah Medical Complex Jeddah, Kingdom of Saudi Arabia
2
ksa , ministry of health , King Fahad Hospital in Hofouf
3
ksa , ministry of health , community laboratory
4
ksa , ministry of health , Alyamamah hospital
5
ksa , ministry of health , Alharam hospital
6
ksa , ministry of health , Prince Salman bin Mohammed Hospital in Dalam
7
ksa , ministry of health , Alardh General Hospital
8
ksa , ministry of health , Almadinah regional laboratory
9
ksa , ministry of health , Al Hamra Health Center
10
ksa , ministry of health , AlHurrath General Hospital
11
ksa , ministry of health , Prince Muhammad bin nasser Hospital in Jazan
12
ksa , ministry of health , Mohayel General Hospital
13
ksa , ministry of health , King Salman Bin Abdulaziz Hospital
14
ksa , ministry of health , Preins slman hospital
Abstract
Background: Thalassemia is a genetic blood disorder caused by mutations in the α- or β-globin gene. Accurate and timely diagnosis is critical for appropriate management and genetic counseling. Traditional diagnostic techniques, such as PCR-based methods, often have limitations, including the inability to detect all genetic variants, long processing times, and high costs. Recent advances in sequencing technologies, specifically Next-Generation Sequencing (NGS) and Third-Generation Sequencing (TGS), offer potential improvements for thalassemia diagnosis by allowing comprehensive mutation detection, including single nucleotide variants (SNVs), insertions/deletions (indels), and copy number variations (CNVs).
Aim: This study aims to review the current diagnostic approaches for thalassemia and evaluate the advantages of NGS and TGS for identifying complex genetic variations associated with both α- and β-thalassemia.
Methods: A detailed review of conventional DNA analysis methods, such as Reverse Dot-Blot Analysis, Gap-PCR, ARMS-PCR, Sanger Sequencing, and MLPA, was conducted. Additionally, the latest advancements in NGS and TGS technologies were discussed, focusing on their ability to simultaneously detect SNVs, indels, and SVs. Case studies of thalassemia diagnoses using NGS and TGS technologies, including detection of rare and complex mutations, were analyzed.
Results: The study found that NGS and TGS technologies significantly improve the accuracy of thalassemia diagnosis by enabling the simultaneous detection of multiple mutation types. These technologies allow for faster and more comprehensive diagnoses, reduce the need for multiple diagnostic tests, and can detect complex mutations that are missed by conventional methods. Additionally, these methods require minimal DNA and offer reduced costs per sample through multiplexing.
Conclusion: NGS and TGS are emerging as valuable tools for the diagnosis of thalassemia, providing significant improvements in the detection of rare and complex mutations. While conventional methods remain important, the integration of NGS and TGS into routine diagnostic workflows will enhance the accuracy and efficiency of thalassemia diagnosis and genetic counseling.
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