Gene Mutation Spectrum of Thalassemia Among Children in Yunnan Province

Huang, Ti-Long; Zhang, Tian-Yao; Cui, Song; Lin, Yun-Bi; Sang, Bao-Hua; Lei, Qing-Ling; Yu, Lei; Yang, Chunhui; Li, Na; Tian, Xin; Yang, Ying; Zhang, Xianwen

doi:10.3389/fped.2020.00159

Cited by 17 publications

(15 citation statements)

References 23 publications

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“…However, it was the most common mutation in Wuhan (41.2%) ( 16 ), Fujian (41.2%) ( 30 ), and Hunan (33.7%) ( 27 ). β CD17 was detected in 1.5% of β-thalassemia cases in the southern part of Hainan, which was lower than that in other provinces of southern China, such as Guangdong ( 12 ), Guangxi ( 18 , 19 , 23 ), Yunnan ( 20 , 22 ), and Sichuan ( 13 ). It is the most common mutation in Yunan ( 20 ), Guizhou ( 31 ), and Baise (Guangxi Province) ( 23 ).…”

Section: Discussionmentioning

confidence: 76%

“…β CD17 was detected in 1.5% of β-thalassemia cases in the southern part of Hainan, which was lower than that in other provinces of southern China, such as Guangdong ( 12 ), Guangxi ( 18 , 19 , 23 ), Yunnan ( 20 , 22 ), and Sichuan ( 13 ). It is the most common mutation in Yunan ( 20 ), Guizhou ( 31 ), and Baise (Guangxi Province) ( 23 ). This result may be explained by the distinctive customs and identities of different ethnicities.…”

Section: Discussionmentioning

confidence: 76%

“…Of the 6,924 thalassemia-positive subjects, 83.9% were α-thalassemia mutation carriers, 5.3% were β-thalassemia mutation carriers, and 10.7% were both α- and β-thalassemia mutation carriers. The results revealed that the carrier frequency was higher than those in previous reports in other provinces of China, such as Guangdong (11.6%) ( 12 ), Sichuan (3.4%) ( 13 ), Dongguan (Guangdong) (47.4%) ( 14 ), Chongqing (7.8%) ( 15 ), Wuhan (57.3%) ( 16 ), Jiangxi (50.3%) ( 17 ), Guangxi (50.1%) ( 18 ), Guangxi (67.0%) ( 19 ), Yunnan (31.9%) ( 20 ), and Hubei (34.9%) ( 21 ), but lower than those described in Yunan (84.2%) ( 22 ), Baise (Guangxi) (92.5%) ( 23 ), and Yulin (Guangxi) (87.1%) ( 24 ). This difference was probably due to the screening strategy.…”

Section: Discussionmentioning

confidence: 99%

“…-α 3.7 and -α 4.2 deletions were the most common deletions in the southern part of Hainan. However, the -- SEA deletion was the most common α-thalassemia genotype in the southern region of China, such as Guangdong ( 14 , 25 ), Guangxi ( 18 , 19 , 23 , 24 , 26 ), Yunnan ( 20 , 22 ), Sichuan ( 13 ), Jiangxi ( 17 ), Hubei ( 16 , 21 ) and Hunan Province ( 27 ). Wang et al ( 11 ) reported that -- SEA /αα was identified in 39.1% of α-thalassemia mutation carriers in Hainan.…”

Section: Discussionmentioning

confidence: 99%

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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: Discussionmentioning

confidence: 76%

Section: Discussionmentioning

confidence: 76%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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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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“…The hemoglobin beta (HBβ) gene contains three exons that are located on 11p15.5. Decreased synthesis in β-chain production following mutations in the β-globin gene causes an imbalance in the ratio of alphaand β-chains that precipitate extra thalassemia β-chains (2).…”

Section: Introductionmentioning

confidence: 99%

Molecular Analysis of β-Globin Mutations Among β-Thalassemia Patients in Hamadan

Ramezani

Bahreini

Ranjbar

et al. 2021

Avicenna J Med Biochem

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Background: β-Thalassemia (βT) is one of the most common genetic diseases. The specific mutation profile of that region can be identified by determining the specific mutations of each region and ethnicity. Objectives: This study investigated the β-globin mutations in patients with βT in Hamadan. Methods: This cross-sectional study was performed on 47 βT carriers. In the present study, the polymerase chain reaction (PCR)-sequencing technique was used to confirm βT carriers, and data were analyzed with SPSS-16 at a 95% confidence level. Results: In general, 164 individuals (81 men and 83 women) suspected of having thalassemia were examined, where 28.7 % (n=47) of them were identified by PCR-sequencing with βT carriers (48.8% male and 53.2% females). Hemoglobin beta (HBβ): c.251 del, HBβ: c.27dupG, and HBβ: c.92+5G>A mutations had the greatest effect on mean corpuscular volume (MCV) reduction, mean corpuscular HB (MCH) reduction, and HbA2 increment, respectively. The most common mutation in both males and females was the same (HBβ: c.315+1G>A). Conclusion: According to the results, the most common mutations in the diagnosis of βT in Hamadan were serially HBβ: c.315+1G>A mutation and HBβ: c.25-26del, HBβ: c.112del, HBβ: c.20A>T, HBβ: 92+6T>C, and HBβ: c.316-106C>G.

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Iron in blood cells: Function, relation to disease, and potential for magnetic separation

Barua

Ciannella

Tijani

et al. 2023

Biotech & Bioengineering

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Iron in blood cells has several physiological functions like transporting oxygen to cells and maintaining iron homeostasis. Iron is primarily contained in red blood cells (RBCs), but monocytes also store iron as these cells are responsible for the recycling of senescent RBCs. Iron also serves an important role related to the function of different leukocytes. In inflammation, iron homeostasis is dependent on cytokines derived from T cells and macrophages. Fluctuations of iron content in the body lead to different diseases. Iron deficiency, which is also known as anemia, hampers different physiological processes in the human body. On the other hand, genetic or acquired hemochromatosis ultimately results in iron overload and leads to the failure of different vital organs. Different diagnoses and treatments are developed for these kinds of disorders, but the majority are costly and suffer from side effects. To address this issue, magnetophoresis could be an attractive technology for the diagnosis (and in some cases treatment) of these pathologies due to the paramagnetic character of the cells containing iron. In this review, we discuss the main functions of iron in blood cells and iron‐related diseases in humans and highlight the potential of magnetophoresis for diagnosing and treating some of these disorders.

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Gene Mutation Spectrum of Thalassemia Among Children in Yunnan Province

Cited by 17 publications

References 23 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

Molecular Analysis of β-Globin Mutations Among β-Thalassemia Patients in Hamadan

Iron in blood cells: Function, relation to disease, and potential for magnetic separation

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