ArticleInternational journal of hematology2021
Prevalence and molecular spectrum of α- and β-globin gene mutations in Hainan, China.
Article in International journal of hematology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 16 citations in OpenAlex.
- Analysis of clinical parameters of different types of α-thalassemia children in Hainan region, China.PeerJ · 2026Article
- A comprehensive case study of deep learning on the detection of alpha thalassemia and beta thalassemia using public and private datasets.Scientific reports · 2025Article
- Prevalence and molecular spectrum of thalassemia in infertile population among different ethnic groups in Hainan Province, China.Molecular genetics and genomics : MGG · 2025Article
- Fujian Province β-Thalassemia: A Molecular and Hematological Study in Southeastern China.Genetics research · 2025Article
- Prevalence of thalassemia-carrier couples and fertility risk assessment.International journal of hematology · 2024Article
- Genotype analysis of 55,281 cases of thalassemia in northern Guangxi.American journal of translational research · 2024Article
- Application of Targeted Next-Generation Sequencing for the Investigation of Thalassemia in a Developing Country: A Single Center Experience.Diagnostics (Basel, Switzerland) · 2023Article
- Article
- Detection of hemoglobin H disease by long molecule sequencing.Journal of clinical laboratory analysis · 2022Article
- Genetic correction of concurrent α- and β-thalassemia patient-derived pluripotent stem cells by the CRISPR-Cas9 technology.Stem cell research & therapy · 2022Article
- Case report: Successful outcome of treatment using rituximab in an adult patient with refractory minimal change disease and β-thalassemia complicating autoimmune hemolytic anemia.Frontiers in medicine · 2022Article
- Molecular Spectrum, Ethnic and Geographical Distribution of Thalassemia in the Southern Area of Hainan, China.Frontiers in pediatrics · 2022Article
- Prevalence and molecular characterization of alpha and beta-Thalassemia mutations among Hakka people in southern China.Genetics and molecular biology · 2022Article
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Authors and funding
11 authors at 1 institution in 1 country.
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Abstract
This study investigated prenatal diagnosis of α-thalassemia and β-thalassemia in 3049 families in 18 regions of Hainan Province. Molecular diagnosis was performed in 3049 couples with thalassemia in Hainan Province. Genomic DNA was extracted from peripheral blood of the couples and villus, amniotic fluid, or cord blood of fetuses. DNA-based diagnosis was performed using polymerase chain reaction. The most commonly detected mutation for α-thalassemia was- SEA/αα (31.53%), followed by - α4.2/αα (11.15%) and - α3.7/αα (11.02%). The most common mutation for β-thalassemia was CD41/42 (30.27%), followed by - 28 (2.56%). Prevalence was highest in the coastal regions and lowest in the Wenchang, Lingao, and Ding'an regions. We also found that the most common gene mutations in Han people and other minority groups were not homogeneous. Prenatal diagnosis showed 556 normal fetuses, 116 with α-thalassemia hydrops, and 134 with β-thalassemia major. Our findings provide important information for clinical genetic counseling regarding prenatal diagnosis for thalassemia major in Hainan Province.
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