ArticleHaemophilia : the official journal of the World Federation of Hemophilia2021
Mutation analysis in the F8 gene in 485 families with haemophilia A and prenatal diagnosis in China.
Article in Haemophilia : the official journal of the World Federation of Hemophilia, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 18 citations in OpenAlex.
- Genotype-Specific Postural Control Deficits in Hemophilia A: Insights from Center of Pressure Analysis Beyond Radiographic Arthropathy.International journal of molecular sciences · 2026Article
- Two decades of prenatal diagnosis in hemophilia A and B: a systematic review of global trends and current practices.Thrombosis journal · 2026Review
- MLDP-AS: an optimized next-generation sequencing assay for enhanced detection of technically challenging variants in expanded carrier screening.Journal of translational medicine · 2026Article
- Semi-automated genomic newborn screening highlights complexities in reporting.NPJ genomic medicine · 2026Article
- Genetic analysis ofFrontiers in medicine · 2026Article
- Spectrum of Factor VIII Gene Variants in 78 Patients with Hemophilia A in Guangxi Province, China, Including Nine Novel Variants: A Descriptive StudyTurkish journal of haematology : official journal of Turkish Society of Haematology · 2025Article
- Deleterious variants cluster in the A3 domain of factor VIII in people with severe hemophilia A and inhibitors.Research and practice in thrombosis and haemostasis · 2025Article
- Investigation of a hemophilia family with one female hemophilia A patient and 12 male hemophilia A patients.Annals of hematology · 2025Article
- Clinical Analysis and Mental Health Survey of Hemophilia Carriers: a Cross-sectional Study.Current medical science · 2024Article
- Determining common variants in patients with haemophilia A in South Vietnam and screening female carriers in their family members.Journal of clinical pathology · 2023Article
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- Experimental validation of a predicted microRNA within humanMolecular biology research communications · 2021Article
- Genotype Hemophilia Screening Program Identified 2 Novel Variants Including a Novel Variant (c.5816-2A > G) Causing a Pathogenic Variant of the Factor 8 Gene.Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/HemostasisArticle
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
backgroundHaemophilia A (HA) is an X-linked bleeding disorder caused by mutations in the coagulation factor Ⅷ (F8) gene. Its incidence in men is estimated to be approximately 1/5000.
objectiveThis study aimed to characterize the mutation spectrum of the F8 gene in 485 Chinese families, encompassing all HA phenotypic classes. Additionally, we evaluated the accuracy of prenatal diagnosis of foetuses at risk of having HA.
methodsLong-Distance PCR (LD-PCR) and Multiplex PCR were used to detect inversions, next-generation sequencing (NGS) was used for point mutations, and multiplex ligation-dependent probe amplification (MLPA) was used for large deletions or duplications.
resultsA mutation spectrum of 478 HA families was produced. Throughout 26 exons and 15 introns, a total of 237 different alterations of mutations were detected, of which 146 are known mutations (64.5%) and 91 are novel mutations (35.5%). Prenatal diagnosis revealed 97 normal males (35.79%), 103 HA males (38.01%), 36 normal females (13.28%), and 38 HA carrier females (14.02%).
conclusionUsing a systematic approach comprised of three steps, 237 pathogenic variants in 478 out of 485 patient samples (98.6%) were detected, including the identification of a heterogeneous mutation spectrum of 91 novel mutations. In addition, prenatal diagnosis of HA in pregnant carriers allowed for accurate determination of the foetal F8 gene state.
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