Evaluation of the High Resolution Melting Approach for Detection of β-Thalassemia Gene Mutations

Tariq, Amna; Khurshid, Sana; Sajjad, Muhammad

doi:10.1080/03630269.2020.1867566

Cited by 2 publications

(1 citation statement)

References 14 publications

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“…These genes should be prioritized for carrier testing and patient evaluation. Although β-Thalassemia is a common blood disorder, HBB gene had a lower number of variants than expected, this can be explained by the design of the panel, which doesn't cover deep intronic, UTR and copy number variants, these are common types of causative mutations in β-Thalassemia [32][33][34] .…”

Section: Discussionmentioning

confidence: 91%

Molecular classification of blood and bleeding disorder genes

et al. 2021

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The advances and development of sequencing techniques and data analysis resulted in a pool of informative genetic data, that can be analyzed for informing decision making in designing national screening, prevention programs, and molecular diagnostic tests. The accumulation of molecular data from different populations widen the scope of utilization of this information. Bleeding disorders are a heterogeneous group of clinically overlapping disorders. We analyzed the targeted sequencing data from ~1285 Saudi individuals in 17 blood and bleeding disorders genes, to determine the frequency of mutations and variants. We used a replication set of ~5000 local exomes to validate pathogenicity and determine allele frequencies. We identified a total of 821 variants, of these 98 were listed in HGMD as disease related variants and 140 were novel variants. The majority of variants were present in VWF, followed by F5, F8, and G6PD genes, while FGG, FGB, and HBA1 had the lowest number of variants. Our analysis generated a priority list of genes, mutations and novel variants. This data will have an impact on informing decisions for screening and prevention programs and in management of vulnerable patients admitted to emergency, surgery, or interventions with bleeding side effects.

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Section: Discussionmentioning

confidence: 91%