Prenatal diagnosis of β-thalassemia in Guangxi Zhuang Autonomous Region, China

He, Sheng; Li, Dongming; Lai, Yunli; Zhang, Qiang; Que, Ting; Tang, Yanqing; Zheng, Chenguang

doi:10.1007/s00404-013-2941-6

Cited by 16 publications

(6 citation statements)

References 18 publications

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“…Currently, the generally used effective method to prevent the birth of children with thalassemia is gene screening combined with prenatal diagnosis for pregnant-age couples. [16][17][18] According to the analysis in the peripheral blood samples from 31 512 couples/probands and 3828 prenatal samples, and retrospective analysis of genetic testing, our study found that the carrying rate of α-thalassemia was higher than that of β-thalassemia. For mutation types, α-thalassemia was mainly large deletion type, while β-thalassemia was mainly point mutation, which is consistent with Guangdong and Guangxi, the proportion of mutation types is also in line with the mutation frequency characteristics of the southern Chinese population.…”

Section: Discussionmentioning

confidence: 73%

Molecular Epidemiology and Hematologic Characterization of Thalassemia in Guangdong Province, Southern China

Xian

Wang

et al. 2022

Clin Appl Thromb Hemost

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Introduction: About 2% of the population in the world are carriers of the thalassemia gene. Thalassemia is highly prevalent in Southern China, and traditional clinical testing methods would cause missed diagnosis of partial static thalassemia. Here, we reviewed and summarized a set of simple and clinically feasible thalassemia detection protocols adopted by the Prenatal Diagnosis and Reproductive Center of our hospital. Methods: From January 1, 2015, to December 31, 2020, 31 512 peripheral blood samples and 3828 prenatal samples were collected in our study. All the peripheral blood samples were performed through thalassemia screening by routine blood tests and hemoglobin electrophoresis and gene detection. The prenatal diagnosis would be implemented for the fetus if the parents were carriers of the same type of thalassemia. Results: A total of 6137 (19.48%) cases were diagnosed as thalassemia, in which 4749 (15.07%) were α-thalassemia, 1196 (3.80%) were β-thalassemia and 192 (0.61%) were co-inheritance of α- and β-thalassemia. For prenatal samples, 3160 (82.55%) cases were diagnosed as thalassemia, in which 2021 (52.80%) were α-thalassemia, 997 (26.05%) were β-thalassemia and 142 (3.71%) were co-inheritance of α- and β-thalassemia. In addition, we also found five novel mutations, including NC_000016.9:g.223681-227492del3812; HBA1: c.301-31_301-24delCTCGGCCCinsG; HBA2: c.95+7C>T for α-thalassemia and HBB: c.263_276delCACTGAGTGAGCTG; HBB: c.315+143G>A for β-thalassemia. Conclusion: The present study updates the epidemiological characteristics and mutation spectrum of thalassemia in Southern China and demonstrated five novel mutations. Our research provides a reference for clinical diagnosis and treatment, prenatal diagnosis, or reproductive genetic counseling for patients with thalassemia in Guangdong.

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Section: Discussionmentioning

confidence: 73%

Molecular Epidemiology and Hematologic Characterization of Thalassemia in Guangdong Province, Southern China

Xian

Wang

et al. 2022

Clin Appl Thromb Hemost

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“…Genomic DNA were extracted from peripheral blood leukocytes using DNA blood extraction kits (Tiangen Bio‐Tech Co. Ltd., Beijing, China). Molecular study for common alpha and beta defects in Chinese population were performed as previously described . Multiplex ligation‐dependent probe amplification (MLPA) was firstly used to analyze dosage changes of the β‐globin gene cluster for associated with (δβ) 0 ‐thal and HPFH mutations.…”

Section: Methodsmentioning

confidence: 99%

“…Molecular study for common alpha and beta defects in Chinese population were performed as previously described. 13,14 Multiplex ligation-dependent probe amplification (MLPA) was firstly used to analyze dosage changes of the β-globin gene cluster for associated with (δβ) 0 -thal and HPFH mutations. Probes and reaction mixture for ligation and PCR were purchased from MRC-Holland (SALSA MLPA kit P102 HBB; MRC-Holland, Amsterdam, the Netherlands).…”

Section: Genetic Analysismentioning

confidence: 99%

The prevalence and molecular characterization of (δβ)⁰‐thalassemia and hereditary persistence of fetal hemoglobin in the Chinese Zhuang population

He¹,

Wei²,

Chen³

et al. 2017

Clinical Laboratory Analysis

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ObjectiveTo reveal the prevalence and molecular characterization of (δβ)0‐thalassemia [(δβ)0‐thal] and hereditary persistence of fetal hemoglobin (HPFH) in the Chinese Zhuang population.MethodsA total of 105 subjects with fetal hemoglobin (Hb F) level ≥5% from 14 204 unrelated ones were selected for the study. Multiplex ligation dependent probe amplification was firstly used to analyze dosage changes of the β‐globin gene cluster for associated with (δβ)0‐thal and HPFH mutations. The gap polymerase chain reaction was then performed to identify the deletions using the respective flanking primers. Hematologic data were recorded and correlated with the molecular findings.ResultsTwenty‐one (0.15%) subjects were diagnosed with Chinese Gγ(Aγδβ)0‐thal. Nine (0.06%) were diagnosed with Southeast Asia HPFH (SEA‐HPFH) deletion. Seventy‐five (0.53%) cases remained uncharacterized. Three genotypes for Chinese Gγ(Aγδβ)0‐thal and SEA‐HPFH deletion were identified, respectively. The genotype‐phenotype relationships were discussed.ConclusionOur study for the first time demonstrated that (δβ)0 and HPFH were not rare events, and molecular characterized Gγ(Aγδβ)0‐thal and HFPH mutations in the Chinese Zhuang population. The findings in our study will be useful in genetic counseling and prenatal diagnostic service of β‐thalassemia in this populations.

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“…In fact, the high prevalence of these conditions has led some governments to focus their resources on preconception testing and counseling for these heritable traits rather than on the less common and (generally) non-heritable aneuploidies. 128 , 129 Nevertheless, many countries in the Middle East, Africa, and South America still lack systematic and widespread prenatal screening programs. 130 …”

Section: Implementation In Lmicsmentioning

confidence: 99%

Non-invasive prenatal testing: a review of international implementation and challenges

Allyse

Minear

Berson

et al. 2015

IJWH

297

271

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Noninvasive prenatal genetic testing (NIPT) is an advance in the detection of fetal chromosomal aneuploidies that analyzes cell-free fetal DNA in the blood of a pregnant woman. Since its introduction to clinical practice in Hong Kong in 2011, NIPT has quickly spread across the globe. While many professional societies currently recommend that NIPT be used as a screening method, not a diagnostic test, its high sensitivity (true positive rate) and specificity (true negative rate) make it an attractive alternative to the serum screens and invasive tests currently in use. Professional societies also recommend that NIPT be accompanied by genetic counseling so that families can make informed reproductive choices. If NIPT becomes more widely adopted, States will have to implement regulation and oversight to ensure it fits into existing legal frameworks, with particular attention to returning fetal sex information in areas where sex-based abortions are prevalent. Although there are additional challenges for NIPT uptake in the developing world, including the lack of health care professionals and infrastructure, the use of NIPT in low-resource settings could potentially reduce the need for skilled clinicians who perform invasive testing. Future advances in NIPT technology promise to expand the range of conditions that can be detected, including single gene disorders. With these advances come questions of how to handle incidental findings and variants of unknown significance. Moving forward, it is essential that all stakeholders have a voice in crafting policies to ensure the ethical and equitable use of NIPT across the world.

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Prenatal diagnosis of β-thalassemia in Guangxi Zhuang Autonomous Region, China

Abstract: Our prenatal diagnosis strategy proved to be highly effective in reducing severe thalassemia in pregnant populations.

Cited by 16 publications

References 18 publications

Molecular Epidemiology and Hematologic Characterization of Thalassemia in Guangdong Province, Southern China

Molecular Epidemiology and Hematologic Characterization of Thalassemia in Guangdong Province, Southern China

The prevalence and molecular characterization of (δβ)⁰‐thalassemia and hereditary persistence of fetal hemoglobin in the Chinese Zhuang population

Non-invasive prenatal testing: a review of international implementation and challenges

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Prenatal diagnosis of β-thalassemia in Guangxi Zhuang Autonomous Region, China

Abstract: Our prenatal diagnosis strategy proved to be highly effective in reducing severe thalassemia in pregnant populations.

Cited by 16 publications

References 18 publications

Molecular Epidemiology and Hematologic Characterization of Thalassemia in Guangdong Province, Southern China

Molecular Epidemiology and Hematologic Characterization of Thalassemia in Guangdong Province, Southern China

The prevalence and molecular characterization of (δβ)0‐thalassemia and hereditary persistence of fetal hemoglobin in the Chinese Zhuang population

Non-invasive prenatal testing: a review of international implementation and challenges

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The prevalence and molecular characterization of (δβ)⁰‐thalassemia and hereditary persistence of fetal hemoglobin in the Chinese Zhuang population