ArticleMolecular genetics & genomic medicine2019
Analysis of deletional hereditary persistence of fetal hemoglobin/δβ-thalassemia and δ-globin gene mutations in Southerwestern China.
Article in Molecular genetics & genomic medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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8 citing papers in PubMed, 15 citations in OpenAlex.
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- Targeting asparagine and cysteine in SARS-CoV-2 variants and human pro-inflammatory mediators to alleviate COVID-19 severity; a cross-section and in-silico study.Scientific reports · 2025Article
- Genotypic and phenotypic characterization of rare globin variants in Northern Guangxi, China.Frontiers in immunology · 2025Article
- Characterization of a novel HBB:c.194dup variant of theThe Journal of international medical research · 2022Article
- 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
- Molecular epidemiology and hematologic characterization of δβ-thalassemia and hereditary persistence of fetal hemoglobin in 125,661 families of greater Guangzhou area, the metropolis of southern China.BMC medical genetics · 2020Article
- Analysis of deletional hereditary persistence of fetal hemoglobin/δβ-thalassemia and δ-globin gene mutations in Southerwestern China.Molecular genetics & genomic medicine · 2019Article
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14 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDeletional hereditary persistence of fetal hemoglobin (HPFH)/δβ-thalassemia and δ-thalassemia are rare inherited disorders which may complicate the diagnosis of β-thalassemia. The aim of this study was to reveal the frequency of these two disorders in Southwestern China.
methodsA total of 33,596 subjects were enrolled for deletional HPFH/δβ-thalassemia, and positive individuals with high fetal hemoglobin (Hb F) level were diagnosed by multiplex ligation-dependent probe amplification (MLPA). A total of 17,834 subjects were analyzed for mutations in the δ-globin gene. Positive samples with low Hb A
resultsA total of 92 suspected cases with Hb F ≥5.0% were further characterized by MLPA. Eight different deletional HPFH/δβ-thalassemia were observed at a frequency of 0.024%. In addition, 195 cases suspected to have a δ-globin gene mutation (Hb A
conclusionScreening of these two disorders was analyzed in Southwestern China, which could define the molecular basis of these conditions in this population.
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