The Prevalence and Spectrum of α-Thalassemia in Guizhou Province of South China

Huang, Sheng‐Wen; Yin, Xinhua; Liu, Xing-Mei; Zhou, Man; Li, Guifang; An, Bangquan; Su, Li; Wu, Xian; Lin, Jing

doi:10.3109/03630269.2015.1041037

Cited by 14 publications

(10 citation statements)

References 15 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The carrier rate (8.91%) for α‐thalassemia in this study was significantly higher than the previously reported 3.28% in Guizhou 7 . These differences may be related to the sample sizes and the detection method of thalassemia gene.…”

Section: Discussioncontrasting

confidence: 81%

“…Qianxinan State, one of its states, located in southwestern Guizhou Province, and adjacent to Yunnan and Guangxi, is geographically linked to the high incidence of thalassemia in this region. Previous studies on thalassemia have been limited due to small sample size, and most of the study subjects were children plus adults 6,7 . The thalassemia carrier rate in the Guizhou population has not yet been subjected to a large‐scale and more comprehensive epidemiological survey.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Early genetic screening uncovered a high prevalence of thalassemia among 18 309 neonates in Guizhou, China

et al. 2021

View full text Add to dashboard Cite

Thalassemia is a common monogenic disease in southwestern China, especially in Guizhou province. In this study, 18 309 neonates were examined for thalassemia. The thalassemia carrier rate was 12.90%, which is associated with geographical regions, with carrier frequencies significantly differing between regions (p < 0.0001). The carrier rates for α‐thalassemia and β‐thalassemia were 8.91% and 3.36%, respectively. There are 22 genotypes identified among 1632 α‐thalassemia cases, and 18 genotypes detected among 615 β‐thalassemia cases. The birthrates of individuals with intermediate thalassemia and β‐thalassemia major were 0.153% and 0.055%, respectively. Methodologically, NGS‐Gap‐PCR is superior to traditional detection methods, with 65 more cases detected by NGS‐Gap‐PCR. Since thalassemia‐rich genotypes were highly prevalent in this region, early detection of thalassemia carriers would be meaningful for genetic counseling and prevention/treatment of thalassemia. NGS‐Gap‐PCR provides a powerful tool for neonate genetic testing and clinical diagnosis of thalassemia, especially in high‐prevalence regions.

show abstract

Section: Discussioncontrasting

confidence: 81%

Section: Introductionmentioning

confidence: 99%

Early genetic screening uncovered a high prevalence of thalassemia among 18 309 neonates in Guizhou, China

et al. 2021

View full text Add to dashboard Cite

show abstract

“…To compare and determine whether NGS genotyping is superior to traditional hematological tests plus Gap-PCR genotyping, we analyzed all the samples with NGS. NGS combined with Gap-PCR was used to screen thalassemia gene mutations, and the speci c experimental methods were the same as those used in our previous studies [3,8].…”

Section: Ngs Genotypingmentioning

confidence: 99%

“…Thalassemia is highly epidemic in southern provinces of China, and it has been a serious public health problem in those regions. Thus, prevention of thalassemia has become a strategic need to reduce birth defects in southern China [3]. Guizhou, as one of the high-incidence province of thalassemia, was populated by multiple ethnic groups, and genetic screening and counseling is usually not available due to economic di culties.…”

Section: Introductionmentioning

confidence: 99%

Prevalence of Thalassemia-carrier of Couples at Childbearing Age and Risk Prediction of Thalassemia

Wu¹,

Zhang²,

Luo³

et al. 2021

Preprint

View full text Add to dashboard Cite

Background: Thalassemia is highly prevalent hematologic disease in Guizhou, China. This study aims to determine the epidemiological characteristics of thalassemia for couples at childbearing age in this subpopulation.Results: There were 4481 couples at childbearing age recruited for thalassemia-carrier screening through both traditional hematological tests and next-generation sequencing (NGS). Of them, 1314 (14.66%) thalassemia-carriers were identified, including 857 (9.76%) α-thalassemia, 391 (4.36%) β-thalassemia, and 48 (0.54%) composite α and β-thalassemia. Of them, 38 couples were high-risk thalassemia carriers. In addition, 12 a-globin gene alterations and 16 b-globin mutations were detected including four novel thalassemia mutations. SEA is the most common α-thalassemia genotype (26.86%), CD41-42 is the most prevalent β-thalassemia genotype (36.57%); the αα/-α3.7 + CD41-42 is the most frequent composite α and β-thalassemia genotype (18.75%). Ethnically, the Zhuang has the highest rate of thalassemia-gene carriers among the ethnic groups. Geographically, Qiannan presented the highest rate of thalassemia-gene carrier. Conclusion: This result enriched the genetic map of thalassemia and provided thalassemia genetic counseling and fertility-guidance for thalassemia-carriers in Guizhou, China. The NGS is so far the most accurate method for population thalassemia screening.

show abstract

“…A-thalassemia is an inherited hemoglobin disorder prevalent in Southeast Asia, the Mediterranean region, and Southern China caused by an α-globin synthesis disorder due to deletions or mutations within the genes that encode the α-globin chains [Weatherall 2010;Huang et al 2015;Harteveld and Higgs 2010]. More than 95% of α-thalassemia cases are deletions rather than non-deletional mutations [Bergstrome and Poon 2002].…”

Section: Introductionmentioning

confidence: 99%

The clinical application of NGS-based SNP haplotyping for PGD of Hb H disease

Chen

Diao

et al. 2017

Systems Biology in Reproductive Medicine

View full text Add to dashboard Cite

This study investigated the usefulness of next-generation sequencing (NGS)-based single nucleotide polymorphism (SNP) haplotyping for preimplantation genetic diagnosis (PGD) of hemoglobin H (Hb H) disease. Multiple displacement amplification (MDA) was used for whole genome amplification (WGA) of biopsied trophectoderm (TE) cells. Gap-PCR and NGS-based SNP haplotyping was used to distinguish the two genotypes of -α/αα and -/αα for PGD of Hb H disease. One out of the ten blastocysts (B11) was successfully diagnosed as genotype -α/αα by Gap-PCR, whereas the others revealed allele dropout (ADO) (B1, B2, B4, B5, B7, B8, B12, and B15) or amplification failure (B10). However, NGS-based SNP haplotyping successfully diagnosed the -α/αα and -/αα genotypes from the MDA products of the biopsied TE cells. The haplotyping result showed that B4, B7, B8, B10, B11, B12, and B15 were carriers of the -α deletion (-α/αα), whereas B1, B2, and B5 were carriers of the - deletion (-/αα). A blastocyst (B11) was transferred into the uterus in a subsequent frozen embryo transfer (FET) cycle after PGD. A healthy infant with a -α/αα genotype weighing 2,800 g was born by cesarean section at the 38 week of gestation. This result indicates that NGS-based SNP haplotyping is a valid screening tool for the PGD of Hb H disease.

show abstract

The Prevalence and Spectrum of α-Thalassemia in Guizhou Province of South China

Cited by 14 publications

References 15 publications

Early genetic screening uncovered a high prevalence of thalassemia among 18 309 neonates in Guizhou, China

Early genetic screening uncovered a high prevalence of thalassemia among 18 309 neonates in Guizhou, China

Prevalence of Thalassemia-carrier of Couples at Childbearing Age and Risk Prediction of Thalassemia

The clinical application of NGS-based SNP haplotyping for PGD of Hb H disease

Contact Info

Product

Resources

About