ArticleJournal of clinical laboratory analysis2022
Genetic research and clinical analysis of β-globin gene cluster deletions in the Chinese population of Fujian province: A 14-year single-center experience.
Article in Journal of clinical laboratory analysis, 2022. 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, 10 citations in OpenAlex.
- Protein Arginine Methyltransferases in γ-Globin Regulation and Sickle Cell Disease: Emerging Connections to Oxidative Stress.Antioxidants (Basel, Switzerland) · 2026Review
- Identification of maternalAnnals of medicine · 2025Article
- The 1357 bp deletion in β-thalassemia: molecular profiling and hematological characterization in a Guangxi cohort.Molecular biology reports · 2025Article
- Screening and the analysis of genotypic and phenotypic characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Fujian province, China.Frontiers in genetics · 2024Article
- Genetic research and clinical analysis of β-globin gene cluster deletions in the Chinese population of Fujian province: A 14-year single-center experience.Journal of clinical laboratory analysis · 2022Article
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7 authors at 1 institution in 1 country.
Funding
Abstract
backgroundHeterozygotes of HPFH and δβ thalassemia are clinically asymptomatic or have mild hemoglobin (Hb) values. However, when both HPFH and δβ-thalassemia are coinherited with heterozygous β-thalassemia, patients may progress to a clinical phenotype of thalassemia intermedia or thalassemia major. The purpose of this study was to characterize the genotypes and analyze the phenotypes of these disorders in Fujian Province, to offer advice for genetic counseling and accurate prenatal diagnosis in this region. A total of 55 001 subjects were participated in thalassemia screening. 142 subjects with HbF levels ≥10%, before the blood transfusion, were selected for further investigation.
methodsMultiplex ligation-dependent probe amplification (MLPA) and Gap-PCR were used to screen for three β-globin gene cluster deletions: Chinese
resultsA total of 142 patients with HbF (≥10%) were enrolled to characterize the molecular basis of β-globin gene cluster deletions in our study; 22 cases 0.04% (22/55 001) were definitively diagnosed with β-globin gene cluster deletions. Ten cases were heterozygous for the Chinese
conclusionIn Fujian Province, the prevalence of common β-globin gene cluster deletions was 0.04%. What's more, the most common β-globin cluster deletions are the Chinese
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