ArticleBMC medical genetics2020
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.
Article in BMC medical genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
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Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 24 citations in OpenAlex.
- Carrier Screening Programs for Cystic Fibrosis, Fragile X Syndrome, Hemoglobinopathies and Thalassemia, and Spinal Muscular Atrophy: A Health Technology Assessment.Ontario health technology assessment series · 2023Pooled it
- Third-generation sequencing technology in the prevention and control of thalassemia: Applications and advances.The Journal of international medical research · 2026Review
- Identification of maternalAnnals of medicine · 2025Article
- Molecular spectrum and carrier frequency of deletional hereditary persistence of fetal hemoglobin and delta-beta thalassemia in Malaysia.Blood research · 2025Article
- The 1357 bp deletion in β-thalassemia: molecular profiling and hematological characterization in a Guangxi cohort.Molecular biology reports · 2025Article
- Third-generation sequencing identified a novel complex variant in a patient with rare alpha-thalassemia.BMC pediatrics · 2024Article
- Molecular characterization of similar Hb Lepore Boston-Washington in four Chinese families using third generation sequencing.Scientific reports · 2024Article
- Long-Read Sequencing Identified a Large NovelHuman mutation · 2023Article
- Utilization of multiple genetic methods for prenatal diagnosis of rare thalassemia variants.Frontiers in genetics · 2023Article
- Analysis of rare thalassemia genetic variants based on third-generation sequencing.Scientific reports · 2022Article
- Detection of four rare thalassemia variants using Single-molecule realtime sequencing.Frontiers in genetics · 2022Article
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundIndividuals with δβ-thalassemia/HPFH and β-thalassemia usually present with intermedia or thalassemia major. No large-scale survey on HPFH/δβ-thalassemia in southern China has been reported to date. The purpose of this study was to examine the molecular epidemiology and hematologic characteristics of these disorders in Guangzhou, the largest city in Southern China, to offer advice for thalassemia screening programs and genetic counseling.
methodsA total of 125,661 couples participated in pregestational thalassemia screening. 654 subjects with fetal hemoglobin (HbF) level ≥ 5% were selected for further investigation. Gap-PCR combined with Multiplex ligation dependent probe amplification (MLPA) was used to screen for β-globin gene cluster deletions. Gene sequencing for the promoter region of HBG1 /HBG2 gene was performed for all those subjects.
resultsA total of 654 individuals had hemoglobin (HbF) levels≥5, and 0.12% of the couples were found to be heterozygous for HPFH/δβ-thalassemia, including Chinese
conclusionsThis study is the first to describe the familial prevalence of HPFH/δβ-thalassemia and the high-risk rate in Greater Guangzhou Area, and the findings will support the implementation of thalassemia screening for three common deletions by gap-PCR. We also presented a systematic description of genotype-phenotype relationships which will be useful for genetic counseling and prenatal diagnostic services for β-thalassemia intermedia.
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