Next-generation sequencing improves thalassemia carrier screening among premarital adults in a high prevalence population: the Dai nationality, China

He, Jing; Song, Wenhui; Yang, Jing; Lu, Sen; Yuan, Yuan; Guo, Junfu; Zhang, Jie; Yang, Kai; Yang, Fan; Long, Fangfang; Peng, Zhiyu; Yu, Hua; Cheng, Lei; Zhu, Baosheng

doi:10.1038/gim.2016.218

Cited by 94 publications

(96 citation statements)

References 31 publications

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“…In another study, 49.5% of Dai people were diagnosed as thalassemia carriers via direct NGS screening. By contrast, 22.0% was found by traditional methods in the same cohort. In our study, we identified 40 genomic variations including 11 rare and novel mutations by combined NGS and Gap‐PCR.…”

Section: Discussionmentioning

confidence: 64%

“…With the advent of NGS techniques in recent years, NGS emerged as a popular tool in prenatal screening . So far, many recent investigations confirmed the advantage of NGS in screening thalassemia carriers and detecting novel and complex variations . An investigation of prevalence and genetic background of thalassemia in Baise Region found 24 common variations and 4 rare novel variations .…”

Section: Discussionmentioning

confidence: 99%

“…These libraries were further paired‐end‐sequenced for 100 base pairs (PE100) with an Illumina HiSeq 2000 machine. The protocol of bioinformatic analysis of identifying hemoglobin gene variations was described previously . All variations were validated with Sanger sequencing.…”

Section: Methodsmentioning

confidence: 99%

“…Therefore, it is required to develop novel technology to screen mutations comprehensively. Recently, next‐generation sequencing (NGS) was used to screen thalassemia carriers in a few studies of China . These studies indicated that the spectrum of thalassemia‐associated variations was much broader than previously reported and suggested that NGS was an effective method in screening thalassemia‐associated variations to facilitate diagnosis.…”

Section: Introductionmentioning

confidence: 99%

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Next‐generation sequencing improves molecular epidemiological characterization of thalassemia in Chenzhou Region, P.R. China

Zhang

et al. 2019

Clinical Laboratory Analysis

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ObjectivesThalassemia is a highly prevalent monogenic inherited disease in southern China. It is important to collect epidemiological data comprehensively for proper prevention and treatment.MethodsIn this study, blood samples collected from 15 807 residents of Chenzhou were primarily screened by hematological tests. A total of 3973 samples of suspected thalassemia carriers were further characterized by combined next‐generation sequencing (NGS) and Gap‐PCR.ResultsIn total, 1704 subjects were diagnosed as thalassemia carriers with a total prevalence rate of 10.78%, including 943 α‐thalassemia carriers, 708 β‐thalassemia carriers, and 53 composite α and β‐thalassemia carriers. The prevalence rates of α‐thalassemia, β‐thalassemia, and composite α and β‐thalassemia were 5.97%, 4.48%, and 0.34%, respectively. Meanwhile, we characterized 19 α‐thalassemia variations and 21 β‐thalassemia variations in thalassemia carriers. Approximately 2.88% of thalassemia carriers would be missed by traditional genetic analysis. In addition, four novel thalassemia mutations and one novel abnormal hemoglobin mutation were identified.ConclusionsOur data suggest a high prevalence of thalassemia and a diverse spectrum of thalassemia‐associated variations in Chenzhou. Also, combined NGS and Gap‐PCR is an effective thalassemia screening method. Our findings might be helpful for prevention and treatment of thalassemia in this region.

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Section: Discussionmentioning

confidence: 64%

Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Next‐generation sequencing improves molecular epidemiological characterization of thalassemia in Chenzhou Region, P.R. China

Zhang

et al. 2019

Clinical Laboratory Analysis

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“…Indeed, a strategy of carrier screening by simply sequencing the whole alpha and beta globin gene clusters by next generation sequencing without any haematological screening has already been shown to be possible in a high-prevalence Chinese population. The authors claimed that NGS sequencing on its own was an improvement over haematological screening, no carriers were missed and some carriers were identified for which haematological screening would have diagnosed as normal [10]. However it was concluded that knowledge of haematological screening data and Hb pattern analysis data was still required in order to understand the importance of some of the globin gene DNA sequence changes revealed by the next generation sequencing data and thus the best carrier screening practice in the future will still require a combination of a patient's haematological data and Hb pattern analysis and a knowledge of thalassaemia and Hb variant genotype-phenotype relationships in addition to the patient's genomic sequence data.…”

Section: Discussionmentioning

confidence: 99%

New Challenges in Diagnosis of Haemoglobinopathies: Migration of Populations

Old¹,

Timbs²,

McCarthy³

et al. 2018

Thalassemia Reports

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The current influx of economic migrants and asylum seekers from countries with a high prevalence of haemoglobinopathies creates new challenges for health care systems and diagnostic laboratories. The migration of carriers introduces new and novel haemoglobinopathy mutations to the diagnostic repertoire of a laboratory, often creating new pressures to improve and update the carrier screening technology and diagnostic scope. For antenatal screening programmes, the marriage of partners from different ethnic groups can lead to the risk of compound heterozygote children being born novel mutation combinations, creating problems in the provision of accurate advice regarding the expected phenotype of the thalassaemia or haemoglobinopathy disorder. In the UK, the impact of immigration required the National Haemoglobinopathy Reference laboratory to change the strategy and techniques used for the molecular diagnosis of thalassaemia and the haemoglobinopathies. In 2005, due to the increasingly large range of β-thalassaemia mutations that needed to be diagnosed, the laboratory switched from a three-step screening procedure using ARMS-PCR to a simpler but more expensive one-step strategy of DNA sequencing of the beta and alpha globin genes for all referrals. After ten years of employing this strategy, a further 57 novel thalassaemia and haemoglobionpopthy alleles were discovered (11 new β-chain variants, 15 α-chain variants, 19 β-thalassaemia mutations and 12 α + -thalassaemia mutations), increasing further the extremely heterogeneous spectrum of globin gene mutations in the UK population.

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Epidemiology of clinically significant forms of alpha‐ and beta‐thalassemia: A global map of evidence and gaps

Musallam¹,

Lombard

Kistler³

et al. 2023

American J Hematol

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This systematic literature review assessed the global prevalence and birth prevalence of clinically significant forms of alpha‐ and beta‐thalassemia. Embase, MEDLINE, and the Cochrane Library were searched for observational studies published January 1, 2000, to September 21, 2021. Of 2093 unique records identified, 69 studies reported across 70 publications met eligibility criteria, including 6 records identified from bibliography searches. Thalassemia prevalence estimates varied across countries and even within countries. Across 23 population‐based studies reporting clinically significant alpha‐thalassemia (e.g., hemoglobin H disease and hemoglobin Bart's hydrops fetalis) and/or beta‐thalassemia (beta‐thalassemia intermedia, major, and/or hemoglobin E/beta‐thalassemia), prevalence estimates per 100 000 people ranged from 0.2 in Spain (over 2014–2017) to 27.2 in Greece (2010–2015) for combined beta‐ plus alpha‐thalassemia; from 0.03 in Spain (2014–2017) to 4.5 in Malaysia (2007–2018) for alpha‐thalassemia; and from 0.2 in Spain (2014–2017) to 35.7 to 49.6 in Iraq (2003–2018) for beta‐thalassemia. Overall, the estimated prevalence of thalassemia followed the predicted pattern of being higher in the Middle East, Asia, and Mediterranean than in Europe or North America. However, population‐based prevalence estimates were not found for many countries, and there was heterogeneity in case definitions, diagnostic methodology, type of thalassemia reported, and details on transfusion requirements. Limited population‐based birth prevalence data were found. Twenty‐seven studies reported thalassemia prevalence from non–population‐based samples. Results from such studies likely do not have countrywide generalizability as they tended to be from highly specific groups. To fully understand the global prevalence of thalassemia, up‐to‐date, population‐based epidemiological data are needed for many countries.

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Next-generation sequencing improves thalassemia carrier screening among premarital adults in a high prevalence population: the Dai nationality, China

Cited by 94 publications

References 31 publications

Next‐generation sequencing improves molecular epidemiological characterization of thalassemia in Chenzhou Region, P.R. China

Next‐generation sequencing improves molecular epidemiological characterization of thalassemia in Chenzhou Region, P.R. China

New Challenges in Diagnosis of Haemoglobinopathies: Migration of Populations

Epidemiology of clinically significant forms of alpha‐ and beta‐thalassemia: A global map of evidence and gaps

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