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

Article

Last updated: 01 Jan 2025

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Subjects

-

Tags

Biochemistry

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.

DOI

10.21608/ejchem.2024.336711.10811

Keywords

NGS, TGS, genetic mutations, diagnostic methods, β-globin, genetic counseling, mutation detection

Authors

First Name

Moteab Abdulmohsen

Last Name

althomari

MiddleName

-

Affiliation

ksa , ministry of health , King Abdullah Medical Complex Jeddah, Kingdom of Saudi Arabia

Email

ficmahac@gmail.com

City

-

Orcid

-

First Name

Ibrahim Taher

Last Name

Bohassan

MiddleName

-

Affiliation

ksa , ministry of health , King Fahad Hospital in Hofouf

Email

ibohassan@moh.gov.sa

City

-

Orcid

-

First Name

zahra hajji

Last Name

bohassan

MiddleName

-

Affiliation

ksa , ministry of health , community laboratory

Email

zhbohassan@moh.gov.sa

City

-

Orcid

-

First Name

Fayez Taher

Last Name

Alhajouji

MiddleName

-

Affiliation

ksa , ministry of health , Alyamamah hospital

Email

ftalhajouj@moh.gov.sa

City

-

Orcid

-

First Name

Ebtihal Lafi M

Last Name

Alhejaili

MiddleName

-

Affiliation

ksa , ministry of health , Alharam hospital

Email

tmara030@gmail.cm

City

-

Orcid

-

First Name

Talal Jubayr

Last Name

alharthi

MiddleName

-

Affiliation

ksa , ministry of health , Prince Salman bin Mohammed Hospital in Dalam

Email

talal-g2011@hotmail.com

City

-

Orcid

-

First Name

Ahmed Mohammed Abdu

Last Name

Sofyani

MiddleName

-

Affiliation

ksa , ministry of health , Alardh General Hospital

Email

amsofyani@moh.gov.sa

City

-

Orcid

-

First Name

Maram Saad

Last Name

Aljohani

MiddleName

-

Affiliation

ksa , ministry of health , Almadinah regional laboratory

Email

maaljhani@moh.gov.sa

City

-

Orcid

-

First Name

Amal Faisal khalaf

Last Name

Al anzi

MiddleName

-

Affiliation

ksa , ministry of health , Al Hamra Health Center

Email

amfaalanzi@moh.gov.sa

City

-

Orcid

-

First Name

Hassan Mohammed Ali

Last Name

Hazazi

MiddleName

-

Affiliation

ksa , ministry of health , AlHurrath General Hospital

Email

hhss80001@hotamil.com

City

-

Orcid

-

First Name

Adel Ahmed

Last Name

Harthi

MiddleName

-

Affiliation

ksa , ministry of health , AlHurrath General Hospital

Email

adharthi@moh.gov.sa

City

-

Orcid

-

First Name

Sajidah Saeed Abdrabuh

Last Name

Aljayzani

MiddleName

-

Affiliation

ksa , ministry of health , Prince Muhammad bin nasser Hospital in Jazan

Email

sajida2439@gmail.com

City

-

Orcid

-

First Name

Ahmed Awadh Mohammed

Last Name

Albarqi

MiddleName

-

Affiliation

ksa , ministry of health , Mohayel General Hospital

Email

ahalbarqi@moh.gov.say

City

-

Orcid

-

First Name

Hassan Mohammed Ali

Last Name

Nasseri

MiddleName

-

Affiliation

ksa , ministry of health , King Salman Bin Abdulaziz Hospital

Email

hnasseri@moh.gov.sa

City

-

Orcid

-

First Name

Safar saad

Last Name

alamoudh

MiddleName

-

Affiliation

ksa , ministry of health , Preins slman hospital

Email

mr.safar@hotmail.com

City

-

Orcid

-

Volume

67

Article Issue

13

Related Issue

46555

Issue Date

2024-12-01

Receive Date

2024-11-15

Publish Date

2024-12-01

Page Start

1,519

Page End

1,531

Print ISSN

0449-2285

Online ISSN

2357-0245

Article File

EJCHEM_Volume 67_Issue 13_Pages 1519-1531.pdf

PDF . 625.8kB

Link

https://ejchem.journals.ekb.eg/article_396115.html

Detail API

https://ejchem.journals.ekb.eg/service?article_code=396115

Order

396,115

Type

Review Articles

Type Code

444

Publication Type

Journal

Publication Title

Egyptian Journal of Chemistry

Publication Link

https://ejchem.journals.ekb.eg/

MainTitle

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

Details

Type

Article

Created At

30 Dec 2024