Thalassemia: Next Generation (NGS) and Third Generation Sequencing (TGS) for the Diagnosis.
althomari, M., Bohassan, I., bohassan, Z., Alhajouji, F., Alhejaili, E., alharthi, T., Sofyani, A., Aljohani, M., Al anzi, A., Hazazi, H., Harthi, A., Aljayzani, S., Albarqi, A., Nasseri, H., alamoudh, S. (2024). Thalassemia: Next Generation (NGS) and Third Generation Sequencing (TGS) for the Diagnosis.. EKB Journal Management System, 67(13), 1519-1531. doi: 10.21608/ejchem.2024.336711.10811
Moteab Abdulmohsen althomari; Ibrahim Taher Bohassan; zahra hajji bohassan; Fayez Taher Alhajouji; Ebtihal Lafi M Alhejaili; Talal Jubayr alharthi; Ahmed Mohammed Abdu Sofyani; Maram Saad Aljohani; Amal Faisal khalaf Al anzi; Hassan Mohammed Ali Hazazi; Adel Ahmed Harthi; Sajidah Saeed Abdrabuh Aljayzani; Ahmed Awadh Mohammed Albarqi; Hassan Mohammed Ali Nasseri; Safar saad alamoudh. "Thalassemia: Next Generation (NGS) and Third Generation Sequencing (TGS) for the Diagnosis.". EKB Journal Management System, 67, 13, 2024, 1519-1531. doi: 10.21608/ejchem.2024.336711.10811
althomari, M., Bohassan, I., bohassan, Z., Alhajouji, F., Alhejaili, E., alharthi, T., Sofyani, A., Aljohani, M., Al anzi, A., Hazazi, H., Harthi, A., Aljayzani, S., Albarqi, A., Nasseri, H., alamoudh, S. (2024). 'Thalassemia: Next Generation (NGS) and Third Generation Sequencing (TGS) for the Diagnosis.', EKB Journal Management System, 67(13), pp. 1519-1531. doi: 10.21608/ejchem.2024.336711.10811
althomari, M., Bohassan, I., bohassan, Z., Alhajouji, F., Alhejaili, E., alharthi, T., Sofyani, A., Aljohani, M., Al anzi, A., Hazazi, H., Harthi, A., Aljayzani, S., Albarqi, A., Nasseri, H., alamoudh, S. Thalassemia: Next Generation (NGS) and Third Generation Sequencing (TGS) for the Diagnosis.. EKB Journal Management System, 2024; 67(13): 1519-1531. doi: 10.21608/ejchem.2024.336711.10811

Thalassemia: Next Generation (NGS) and Third Generation Sequencing (TGS) for the Diagnosis.

Egyptian Journal of Chemistry
Volume 67, Issue 13, December 2024, Page 1519-1531  XML PDF (611.12 K)
Document Type: Review Articles
DOI: 10.21608/ejchem.2024.336711.10811
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Authors
Moteab Abdulmohsen althomari email 1; Ibrahim Taher Bohassan2; zahra hajji bohassan3; Fayez Taher Alhajouji4; Ebtihal Lafi M Alhejaili5; Talal Jubayr alharthi6; Ahmed Mohammed Abdu Sofyani7; Maram Saad Aljohani8; Amal Faisal khalaf Al anzi9; Hassan Mohammed Ali Hazazi10; Adel Ahmed Harthi10; Sajidah Saeed Abdrabuh Aljayzani11; Ahmed Awadh Mohammed Albarqi12; Hassan Mohammed Ali Nasseri13; Safar saad alamoudh14
1ksa , ministry of health , King Abdullah Medical Complex Jeddah, Kingdom of Saudi Arabia
2ksa , ministry of health , King Fahad Hospital in Hofouf
3ksa , ministry of health , community laboratory
4ksa , ministry of health , Alyamamah hospital
5ksa , ministry of health , Alharam hospital
6ksa , ministry of health , Prince Salman bin Mohammed Hospital in Dalam
7ksa , ministry of health , Alardh General Hospital
8ksa , ministry of health , Almadinah regional laboratory
9ksa , ministry of health , Al Hamra Health Center
10ksa , ministry of health , AlHurrath General Hospital
11ksa , ministry of health , Prince Muhammad bin nasser Hospital in Jazan
12ksa , ministry of health , Mohayel General Hospital
13ksa , ministry of health , King Salman Bin Abdulaziz Hospital
14ksa , 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.
Keywords
NGS; TGS; genetic mutations; diagnostic methods; β-globin; genetic counseling; mutation detection
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