The spectrum of beta-thalassemia mutations in the 22 Arab countries: a systematic review

Khan, Aisha Moeen; Al-Sulaiti, Asma; Younes, Salma; Yassin, Mohamed A; Zayed, Hatem

doi:10.1080/17474086.2021.1860003

Cited by 30 publications

(24 citation statements)

References 77 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%

Molecular classification of blood and bleeding disorder genes

et al. 2021

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“…Thalassemia is the most common hemoglobinopathy, almost 5% worldwide have at least one thalassemia defect allele. It is highly prevalent in Southeast Asia, the Asian‐Indian subcontinent, and the Mediterranean region 1,4 …”

Section: Discussionmentioning

confidence: 99%

Low back pain in beta thalassemia major revealing sacral extramedullay hematopoeisis: A case report

Raza

Okar

Elhiday

et al. 2021

Clinical Case Reports

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“…The ethnic composition of the Arab world has historically been altered, yielding a high degree of genetic heterogeneity [8]. It is noteworthy to mention that consanguinity rates are high in most Arab countries, with first-cousin marriage rates reaching 30% [9], this makes the architecture of the Arab genome unique with regard to their susceptibility to different diseases, including both Mendelian and complex diseases [10][11][12][13][14][15][16][17][18][19][20]. Given that certain ethnic groups and specific populations residing in particular geographic areas in the Arab world are more prone to obesity than others, genetic factors are believed to play a key role in predisposing certain Arab populations to obesity [21].…”

Section: Introductionmentioning

confidence: 99%

Genetic polymorphisms associated with obesity in the Arab world: a systematic review

et al. 2021

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Background Obesity, one of the most common chronic health conditions worldwide, is a multifactorial disease caused by complex genetic and environmental interactions. Several association studies have revealed a considerable number of candidate loci for obesity; however, the genotype–phenotype correlations remain unclear. To date, no comprehensive systematic review has been conducted to investigate the genetic risk factors for obesity among Arabs. Objectives This study aimed to systematically review the genetic polymorphisms that are significantly associated with obesity in Arabs. Methods We searched four literature databases (PubMed, Science Direct, Scopus, and Google Scholar) from inception until May 2020 to obtain all reported genetic data related to obesity in Arab populations. Quality assessment and data extraction were performed individually by three investigators. Results In total, 59 studies comprising a total of 15,488 cases and 9,760 controls were included in the systematic review. A total of 76 variants located within or near 49 genes were reported to be significantly associated with obesity. Among the 76 variants, two were described as unique to Arabs, as they have not been previously reported in other populations, and 19 were reported to be distinctively associated with obesity in Arabs but not in non-Arab populations. Conclusions There appears to be a unique genetic and clinical susceptibility profile of obesity in Arab patients.

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The spectrum of beta-thalassemia mutations in the 22 Arab countries: a systematic review

Cited by 30 publications

References 77 publications

Molecular classification of blood and bleeding disorder genes

Molecular classification of blood and bleeding disorder genes

Low back pain in beta thalassemia major revealing sacral extramedullay hematopoeisis: A case report

Genetic polymorphisms associated with obesity in the Arab world: a systematic review

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