ArticleZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics2021
Genotypes of thalassemia in children: an analysis of 30 417 cases.
Article in Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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5 citing papers in PubMed, 8 citations in OpenAlex.
- The diagnosis and clinical characterization of -α3.7/--SEA thalassemia patients: two cases report.Annals of hematology · 2025Article
- Genotype Distribution and Clinical Characteristics of Thalassemia Patients Needing Transfusion in Yangjiang, Western Guangdong.Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie · 2025Article
- Third-generation sequencing identified a novel complex variant in a patient with rare alpha-thalassemia.BMC pediatrics · 2024Article
- Progress of newborn screening in China.Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2023Article
- Rare and New Mutations of B-Globin in Azari Population of Iran, a Considerable Diversity.Balkan journal of medical genetics : BJMG · 2023Article
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2 authors at 1 institution in 1 country.
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Abstract
objectivesTo investigate the distribution of genotypes of thalassemia in children in Guangxi, China.
methodsA total of 30 417 children with positive results of thalassemia screening in the Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region from January 2011 to December 2019 were enrolled. Single-tube multiplex PCR, agarose gel electrophoresis, and reverse dot blot hybridization technique were used for the detection of common α- and β-thalassemia genes. Gap-PCR or gene sequence analysis was performed for 2 703 children suspected of rare thalassemia.
resultsAmong the 30 417 children with positive results of thalassemia screening, 23 214 (76.32%) were diagnosed with thalassemia, and the detection rates of α-thalassemia, β-thalassemia, and α-thalassemia with β-thalassemia were 47.77%, 23.75%, and 4.80% respectively. A total of 13 types of α-thalassemia alleles (18 480 alleles in total) were detected, mainly --
conclusionsThere are diverse gene mutations and rich genotypes of thalassemia among children in Guangxi, and α-thalassemia is more common, with --
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