Development of the Next Generation Sequencing-Based Diagnostic Test for β-Thalassemia and its Validation in a Pashtun Family

Sabiha, Bibi; Haider, Syed Adnan; Jan, Hanifullah; Yousafzai, Yasar Mehmood; Afridi, Ome Kalsoom; Khan, Abid Ali; Ali, Johar

doi:10.1080/03630269.2020.1793773

Cited by 3 publications

(1 citation statement)

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“…In other cases, NGS also enables the identification of at-risk family members, which facilitates the institution of counseling and treatments early in the presymptomatic phase without the need for troublesome linkage-based methods (38). This is demonstrated by Sabiha et al (39), who, while validating the diagnosis of a rare homozygous A > AC/AC insertion mutation from a transfusion-dependent β-thalassemia affected child with NGS, also identified all the healthy family members as β-thalassemia carriers of the same synonymous mutation. With a single test, not only does this safeguard from passing the deleterious mutation, but it also helps national thalassemia programs to confirm the competency of the rare frameshift variant to cause β-thalassemia major.…”

Section: Next-generation Sequencing In the Molecular Diagnosis Of Tha...mentioning

confidence: 74%

Applications of next generation sequencing in the screening and diagnosis of thalassemia: A mini-review

et al. 2022

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Thalassemias are a group of inherited blood disorders that affects 5–7% of the world population. Comprehensive screening strategies are essential for the management and prevention of this disorder. Today, many clinical and research laboratories have widely utilized next-generation sequencing (NGS) technologies to identify diseases, from germline and somatic disorders to infectious diseases. Yet, NGS application in thalassemia is limited and has just recently surfaced due to current demands in seeking alternative DNA screening tools that are more efficient, versatile, and cost-effective. This review aims to understand the several aspects of NGS technology, including its most current and expanding uses, advantages, and limitations, along with the issues and solutions related to its integration into routine screening and diagnosis of thalassemias. Hitherto, NGS has been a groundbreaking technology that offers tremendous improvements as a diagnostic tool for thalassemia in terms of its higher throughput, accuracy, and adaptability. The superiority of NGS in detecting rare variants, solving complex hematological problems, and providing non-invasive alternatives to neonatal diagnosis cannot be overlooked. However, several pitfalls still preclude its use as a stand-alone technique over conventional methods.

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Section: Next-generation Sequencing In the Molecular Diagnosis Of Tha...mentioning

confidence: 74%