Molecular spectrum of thalassemia in tropical Hainan Island of southern China: high allele frequency with low health burden

Lai, Yanquan; Tao, Fangchao; Huang, Min; Lin, Kaiting; Li, Yang; Huang, Weilun; Zhou, Wanjun

doi:10.1016/j.jgg.2022.03.010

Cited by 3 publications

(3 citation statements)

References 18 publications

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“…Furthermore, with economic improvement and population migration, thalassemia is spreading to all parts of China, including all parts of Hainan. Only a few studies have reported the prevalence rates and mutations associated with α- and β-thalassemia in this region ( 9 – 11 ), and the current epidemiological characteristics (molecular spectrum, ethnic, and regional) of thalassemia are not completely understood.…”

Section: Introductionmentioning

confidence: 99%

Molecular Spectrum, Ethnic and Geographical Distribution of Thalassemia in the Southern Area of Hainan, China

Gao

et al. 2022

Front. Pediatr.

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BackgroundThalassemia is one of the most common genetic diseases in southern China. Accurate population frequency data regarding the occurrence and distribution of thalassemia are important for designing appropriate prevention strategies for thalassemia. This study aims to reveal the molecular spectrum, ethnic and geographical distribution of thalassemia in the southern area of Hainan Province, China.MethodsA total of 9813 suspected carriers of thalassemia were screened for genetic analysis by using the PCR-reverse dot blot hybridization method targeting three known deletions of α-thalassemias (--SEA, -α3.7, and -α4.2), three nondeletional mutations of α-thalassaemias (αCS, αQS, and αWS) and the 17 most common mutations of β-thalassaemias in the Chinese population.ResultsApproximately 6,924 subjects were genetically diagnosed as thalassemia carriers or patients, including 5812 cases of α-thalassemia (83.9%), 369 cases of β-thalassemia (5.3%), and 743 cases of α-composite β-thalassemia (10.7%). A total of 21 distinct genotypes were identified among the 5,812 α-thalassemia carriers, -α4.2/αα, -α3.7/αα, and -α3.7/-α4.2 were the most common α-thalassemia genotypes. The most frequent β-thalassemia genotype was βCD41−42/βN, with a notable proportion of 69.6%, followed by the β−28M/βN, βIVS−II−654/βN, βCD71−72/βN, βE/βN, and βCD17/βN genotypes. In addition, 37 genotypes were detected among the 743 cases of both α- and β-thalassemia mutations. The α-thalassemia genotypes were most commonly found in the Li people, who accounted for 73.5% of α-thalassemia carriers. The β-thalassemia genotypes were most commonly identified in the Han people, who accounted for 59.4% of β-thalassemia carriers. Among the subjects carrying both α- and β-thalassemia variations, only three ethnic minorities were identified, including the Li, Han, and Miao people, accounting for 82.0, 17.4, and 0.7%, respectively.ConclusionsOur study indicates that there is high genetic heterogeneity, geographical and ethnic differences in thalassemia in populations in the southern area of Hainan Province. These findings will be helpful in guiding genetic counseling and prenatal diagnosis of thalassemia in Hainan Province.

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Section: Introductionmentioning

confidence: 99%

Molecular Spectrum, Ethnic and Geographical Distribution of Thalassemia in the Southern Area of Hainan, China

Gao

et al. 2022

Front. Pediatr.

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“…In conclusion, using the strategy of symmetric multiplex PCR and single-labelled probes melting curve analysis, we developed a novel real-time PCR-based method for simultaneously genotyping of four deletional ( -α 3.7 , -α 4.2 , _ _ SEA , _ _ THAI ) and five non-deletional ( α CD30(-GAG) α , α CD31(G>A) α , α WS α, α QS α, α CS α ) α-thalassaemia mutations in a closed-tube reaction. These nine α-thalassaemia mutations are common in Southeast Asia and southern China, accounting for about 98% of the α-thalassaemia alleles 1 4 5 12. Then after the routine phenotypic screening of haematological indices,10 23 the vast majority of α-thalassaemia can be efficiently genotyped with this novel method.…”

Section: Discussionmentioning

confidence: 99%

“…Thalassaemia is one of the most common monogenetic disorders caused by reduced or absent synthesis of globin chains, affecting approximately 5% of the world’s population 1–3. This disease is mainly classified into α-thalassaemia and β-thalassaemia depending on which globin chain affected.…”

Section: Introductionmentioning

confidence: 99%

One-step genotyping of α-thalassaemia by multiplex symmetric PCR melting curve

Jiachun

et al. 2022

J Clin Pathol

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AimsAlpha-thalassaemia is one of the most common monogenic disorders worldwide. Due to high guanine-cytosine (GC) content and high mutation diversity in α-globin gene cluster, deletional and non-deletional mutations were usually separately detected with different methods. The aim of this study was to develop a novel one-step method for α-thalassaemia genotyping.MethodsA multiplex symmetric PCR melting curve strategy was designed for one-step α-thalassaemia genotyping. Based on this strategy, a novel method was developed to simultaneously detect four common deletional (-α3.7, -α4.2, _ _SEA, --THAI) and five common non-deletional (αCD30(-GAG)α, αCD31(G>A)α, αWSα, αQSα, αCSα) α-thalassaemia mutations in a closed-tube reaction. This method was also evaluated by double-blind detection of 235 genotype-known samples and 1630 clinical samples.ResultsAll nine α-thalassaemia mutations could be accurately identified by this novel method within 3 hours. The evaluation results also showed a 100% concordance with comparison methods.ConclusionsThis method is rapid, accurate, low-cost and easy to operate, which can be used for molecular screening and genetic diagnosis of α-thalassaemia in clinical practice. The multiplex symmetric PCR melting curve strategy designed in this study can also provide an effective approach to the method development for high GC content templates and multiple mutations.

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Target-allele-specific probe single-base extension (TASP-SBE): a novel MALDI–TOF–MS strategy for multi-variants analysis and its application in simultaneous detection of α-/β-thalassemia mutations

et al. 2023

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Molecular spectrum of thalassemia in tropical Hainan Island of southern China: high allele frequency with low health burden

Cited by 3 publications

References 18 publications

Molecular Spectrum, Ethnic and Geographical Distribution of Thalassemia in the Southern Area of Hainan, China

Molecular Spectrum, Ethnic and Geographical Distribution of Thalassemia in the Southern Area of Hainan, China

One-step genotyping of α-thalassaemia by multiplex symmetric PCR melting curve

Target-allele-specific probe single-base extension (TASP-SBE): a novel MALDI–TOF–MS strategy for multi-variants analysis and its application in simultaneous detection of α-/β-thalassemia mutations

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