Pedigree Analysis of Nonhomologous Sequence Recombination of <i>HBA1</i> and <i>HBA2</i> Genes

Luo, Shiqiang; Chen, Xingyuan; Tang, Ning; Huang, Jiling; Zhong, Qingyan; Cai, Ren; Yan, Tizhen

doi:10.1080/03630269.2020.1807355

Cited by 4 publications

(2 citation statements)

References 8 publications

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“…Although we thoroughly assessed all the globin gene mutations in triplication carriers, some information has not been covered, such as HBA12 which has garnered substantial attention in the research community (S.Q. Luo et al, 2020 ; Borgio et al, 2014 ). Additionally, a previous study has suggested a link between α globin gene copy number and chronic kidney disease, as well as end-stage kidney disease ( Ruhl et al, 2022 ).…”

Section: Discussionmentioning

confidence: 99%

Prevalence and genetic analysis of triplicated α-globin gene in Ganzhou region using high-throughput sequencing

Xie,

Gan,

Liu

et al. 2023

Front. Genet.

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α-globin gene triplication carriers were not anemic in general, while some studies found that α-globin gene triplication coinherited with heterozygous β-thalassemia may cause adverse clinical symptoms, which yet lacks sufficient evidence in large populations. In this study, we investigated the prevalence and distribution of α-globin gene triplication as well as the phenotypic characteristics of α-globin gene triplication coinherited with heterozygous β-thalassemia in Ganzhou city, southern China. During 2021-2022, a total of 73,967 random individuals who received routine health examinations before marriage were genotyped for globin gene mutations by high-throughput sequencing. Among them, 1,443 were α-globin gene triplication carriers, with a carrier rate of 1.95%. The most prevalent mutation was αααanti3.7/αα (43.10%), followed by αααanti4.2/αα (38.12%). 42 individuals had coinherited α-globin gene triplication and heterozygous β-thalassemia. However, they did not differ from the individuals with heterozygous β-thalassemia and normal α-globin (αα/αα) in terms of mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) levels. In addition, heterogenous clinical phenotypes were found in two individuals with the same genotype. Our study established a database of Ganzhou α-globin gene triplication and provided practical advice for the clinical diagnosis of α-globin gene triplication.

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Section: Discussionmentioning

confidence: 99%

Prevalence and genetic analysis of triplicated α-globin gene in Ganzhou region using high-throughput sequencing

Xie,

Gan,

Liu

et al. 2023

Front. Genet.

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“…While non-blood transfusion dependent thalassemia patients, patients suffering from hepatitis and whose parents refused to participate were excluded. The carriers were identified using the cut-off value MCV (fL) < 80 and MCH (pg) < 27 as referred by previous studies 15 , 16 . The detailed demographic and clinical report of patients has been provided in Supplementary Table S1 and carriers demography and detailed information of patients and has been given in Supplementary Tables S2 and S3 , respectively.…”

Section: Methodsmentioning

confidence: 99%

Mutational analysis of hemoglobin genes and functional characterization of detected variants, through in-silico analysis, in Pakistani beta-thalassemia major patients

Ejaz,

Abdullah,

Usman

et al. 2023

Sci Rep

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Thalassemia is one of the most prevalent genetic disorders worldwide. The present study aimed to explore the mutational spectrum of all hemoglobin (HB) encoding genes and to identify the potentially damaging and pathogenic variants in the beta (β)-thalassemia major patients and thalassemia minor carriers of Southern Punjab, Pakistan. A total of 49 β-thalassemia major patients and 49 carrier samples were screened for the identification of HBA1, HBA2, HBB, HBD, HBE1, HBG1 and HBG2 variants by NGS. PCR was performed for the amplification of HB encoding genes and the amplified product of 13 patients and 7 carrier samples were processed for the Sanger sequencing. Various bioinformatics tools and databases were employed to reveal the functional impact and pathogenicity potential of the observed variants. Results depicted a total of 20 variants of HB-related genes by NGS and 5 by Sanger sequencing in thalassemia patients. While 20 variants by NGS and 3 by Sanger were detected in carriers. Few known genetic variants of HB-encoding genes are being reported for the first time in Pakistani thalassemia patients and carriers. However, two novel HBB variants c.375A>C (p.P125P) and c.*61T>G and a novel variant of HBE1 (c.37A>T (p.T13S)) were also documented. Pathogenicity analysis predicted the pathogenic potential of HBB variants (c.47G>A (p.W16*), c.27-28insG (p. S10fs), and c.92+5G>C) for β thalassemia. The study of functional impact indicated that these HBB variants result in the premature termination of translation leading to the loss of functional β-globin protein. It is therefore suggested that the pathogenic HBB variants, identified during present study, can be employed for the diagnosis, carrier screening, and planning therapy of thalassemia.

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Prevalence and molecular spectrum of α- and β-globin gene mutations in Hainan, China

et al. 2021

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Background: Thalassemia is one of the most prevalent inherited single gene diseases. Prevention of βthalassemia through prenatal diagnosis is the one of the most effective and direct approach to control the spread of this life-threatening disease. This study aims to determine the prenatal diagnosis of αthalassemia and β-thalassemia in 3049 families among eighteen regions of Hainan Province using molecular diagnosis.Methods: This study enrolled a total of 3049 couples and their fetuses at The First A liated Hospital of Hainan Medical University from January 2004 to March 2020. Genomic DNA was extracted from peripheral blood of the couples and villus, amniotic uid, or fetal cord blood of fetuses. DNA-based diagnosis was performed using polymerase chain reaction.Results: Here, the most commonly detected mutation of α-thalassemia was a South-East Asian deletion (31.53%), followed by -α 4.2 /αα (11.15%), -α 3.7 /αα (11.02%). The most common mutation for βthalassemia was CD41/42, followed by -28, accounting for 30.27% and 2.56%, respectively. The regions with the highest prevalence were the coastal regions and the regions with the lowest prevalence were Wenchang, Lingao and Ding'an. We also examined thalassemia gene mutations in Han people and other minority groups and found that the most common gene mutations in different ethnic were not homogeneous. Prenatal diagnosis showed 556 normal, 118 α-thalassemia hydrops and 161 βthalassemia major fetuses. Conclusion:Our ndings provide important information for clinical genetic counseling of prenatal diagnosis for thalassemia major in Hainan Province. Methods SubjectsThis study included pregnant women and their husbands who registered for a program of diagnosis of thalassemia at The First A liated Hospital of Hainan Medical University in Hainan Province between January 2004 and March 2020. All couples had resided in Hainan Province, and came from eighteen regions including Haikou,

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Pedigree Analysis of Nonhomologous Sequence Recombination of HBA1 and HBA2 Genes

Cited by 4 publications

References 8 publications

Prevalence and genetic analysis of triplicated α-globin gene in Ganzhou region using high-throughput sequencing

Prevalence and genetic analysis of triplicated α-globin gene in Ganzhou region using high-throughput sequencing

Mutational analysis of hemoglobin genes and functional characterization of detected variants, through in-silico analysis, in Pakistani beta-thalassemia major patients

Prevalence and molecular spectrum of α- and β-globin gene mutations in Hainan, China

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