Evaluation of intervention strategy of thalassemia for couples of childbearing ages in Centre of Southern China

Jiang, Fan; Zuo, Liandong; Li, Jian; Chen, Guilan; Tang, Xin; Zhang, Jianying; Qu, Yanghua; Li, Dong-Zhi; Liao, Can

doi:10.1002/jcla.23990

Cited by 10 publications

(9 citation statements)

References 20 publications

(24 reference statements)

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“…Among the 13,550 patients, 8% were carriers of α-thalassemia, including 4 cases of--SEA /αα (0.37%). These results are consistent with those reported by Jiang et al (Jiang et al, 2021), who did not find any patients with --SEA /αα. ROC curves showed that MCV and MCH (cut-off points of 74.6 fL and 24.4 pg) could effectively identify α 0 -thalassemia carriers and HbH disease.…”

Section: Discussionsupporting

confidence: 94%

“…In Guangxi, the carrier rate of thalassemia genes is approximately 20%, which is significantly higher than that in other provinces and regions, such as Guangdong (11.6%), Hong Kong (8.4%), Taiwan (5.5%), Sichuan (4.1%), and Jiangxi (2.7%) (Liu et al, 2019;Jiang et al, 2021). As a result, fetal hydrops syndrome (severe α-thalassemia) has consistently been a prominent birth defect in the Guangxi region for many years.…”

Section: Discussionmentioning

confidence: 89%

“…Therefore, it is crucial to implement interventions that target high-risk populations to prevent the birth of children with severe α-thalassemia. Prenatal screening programs are established in countries with a high prevalence of thalassemia ( Sorour et al, 2007 ; Bhukhanvala et al, 2013 ; Jiang et al, 2021 ). These programs typically involve initial tests, such as measuring red blood cell indices and quantifying hemoglobin(Hb)A2 levels.…”

Section: Introductionmentioning

confidence: 99%

“…These programs typically involve initial tests, such as measuring red blood cell indices and quantifying hemoglobin(Hb)A2 levels. Although quantifying HbA2 using techniques such as capillary electrophoresis or high-performance liquid chromatography is effective in detecting most β-thalassemia traits, identifying α-thalassemia traits remains challenging owing to limited screening tests ( Han et al, 2019 ; Mustafa et al, 2020 ; Jiang et al, 2021 ; Vachhani et al, 2022 ). In certain cases, such as individuals with borderline hypochromia, compound triplicated α-globin genes, or β-thalassemia, α 0 -thalassemia may remain undetected ( Sorour et al, 2007 ; Colaco and Nadkarni, 2021 ).…”

Section: Introductionmentioning

confidence: 99%

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Routine antenatal molecular testing for α-thalassemia at a tertiary referral hospital in China: ten years of experience

Li,

Liang,

Meng

et al. 2024

Front. Genet.

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ObjectiveThis study aimed to evaluate the efficacy of α-thalassemia gene testing as a part of an antenatal intervention program over a 10-year period.MethodsAll patients underwent α-thalassemia gene testing, which included the analysis of three types of deletions and mutations. Rare α-thalassemia gene testing was performed using Sanger sequencing, multiplex ligation-dependent probe amplification, and sequencing techniques. Prenatal diagnosis was performed in high-risk couples using chorionic villus sampling or amniocentesis.ResultsFrom 2010 to 2019, among the 91,852 patients examined, α-thalassemia mutations were identified in 41.78% of patients. The most frequent α0 gene mutation was--SEA, followed by--THAI. Two rare α0-thalassemia gene mutations at --32.8 and --230, were also observed. A total of 2,235 high-risk couples were identified, of which 562 were affected, including three with the--SEA/--THAI genotype and one with the--SEA/--230 genotype. Additionally, prenatal diagnosis revealed four cases of fetal anemia and/or mild edema, along with two cases of severe fetal edema. Chromosome and gene chip results were normal. Thalassemia gene testing showed an αCSα/αCSα genotype in four patients with anemia and/or mild edema, while two patients with severe fetal edema had one--SEA/αCSα genotype and one--SEA/--GX genotype. Using the cut-off points of 74.6 fL and 24.4 pg as criteria for identifying α0-thalassemia carriers and HbH disease, the detection rate of missed diagnoses in high-risk couples is consistent with national guidelines for standards, potentially saving 10,217,700 ¥.ConclusionRoutine molecular testing for α-thalassemia in high-risk prenatal populations effectively prevented severe α-thalassemia births. Despite the high cost, the cutoff points proposed by this study suggest that implementing screening using a new parameter has the potential to reduce current expenses.

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Section: Discussionsupporting

confidence: 94%

Section: Discussionmentioning

confidence: 89%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Routine antenatal molecular testing for α-thalassemia at a tertiary referral hospital in China: ten years of experience

Li,

Liang,

Meng

et al. 2024

Front. Genet.

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“…The hemoglobin components were analyzed with a capillary electrophoresis system (Sebia Electrophoresis System, France). According to thalassemia screening guideline 10 and cut‐off value of privious study, 11 a positive result for thalassemia screening was defined as detection of MCV < 82 fL, or MCH < 27 pg, or Hb A 2 > 3.5%, or Hb A 2 < 2.5%, or abnormal hemoglobin zone. When one member of a couple was positive for thalassemia screening, thalassemia genetic testing was performed on both of them.…”

Section: Methodsmentioning

confidence: 99%

Molecular spectrum of α‐ and β‐thalassemia among individuals of reproductive age in the Zhuhai region of southern China

Wang

Huang

Zhao

et al. 2023

Int J Lab Hematology

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Introduction Thalassemia is the most common monogenic disease in South and Southeast Asia. An accurate assessment of the relative frequency and composition of thalassemia mutations is important for the design of appropriate strategies to prevent the disease. In this study, we aimed to decode the molecular characterization of thalassemia mutations in Zhuhai region of southern China. Methods A total of 8048 individuals who were potential thalassemia carriers were enrolled. Gap‐polymerase chain reaction (Gap‐PCR) and reverse dot‐blot (RDB) hybridization methods were employed to detect common deletional and non‐deletional thalassemia mutations. Multiplex ligation dependent probe amplification (MLPA) and Sanger sequencing were used to analyze and verify rare and complex mutations. Results We diagnosed 3433 individuals as thalassemia carriers or patients. Of these, 2395 (69.76%) individuals with α‐thalassemia harbored 13 α‐globin gene mutations. The three most common α‐thalassemia mutations were ‐‐SEA (60.08%), ‐α3.7 (20.62%) and ‐α4.2 (9.25%). We diagnosed 903 (26.30%) individuals with β‐thalassemia and identified 20 β‐globin gene mutations, of which the three most frequent were CD41/42 (‐TCTT) (38.10%), IVS‐II‐654 (C>T) (23.69%) and TATAbox‐28 (A>G) (15.18%). In addition, we identified 15 rare thalassemia variants. We also summarized the association between the thalassemia genotype and hematological parameters, which demonstrated the broad phenotypic heterogeneity caused by globin gene mutations. Conclusion This is the first survey of thalassemia molecular epidemiology and hematological phenotype in Zhuhai region. It uncovered a high prevalence and complex molecular spectrum of thalassemia. These findings can be used as a basis for thalassemia diagnosis, counseling and prevention management.

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Advances in screening of thalassaemia

Gao

Liu²

2022

Clinica Chimica Acta

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Evaluation of intervention strategy of thalassemia for couples of childbearing ages in Centre of Southern China

Cited by 10 publications

References 20 publications

Routine antenatal molecular testing for α-thalassemia at a tertiary referral hospital in China: ten years of experience

Routine antenatal molecular testing for α-thalassemia at a tertiary referral hospital in China: ten years of experience

Molecular spectrum of α‐ and β‐thalassemia among individuals of reproductive age in the Zhuhai region of southern China

Advances in screening of thalassaemia

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