ArticleAmerican journal of hematology2014
Mutation analysis of a cohort of US patients with hemophilia B.
Article in American journal of hematology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed.
- Extravascular factor IX: a semicentennial narrative review.Research and practice in thrombosis and haemostasis · 2026Review
- Missense and nonsense mutations and inhibitor development in patients with hemophilia A and B.Journal of thrombosis and thrombolysis · 2026Review
- Identification of NovelJournal of blood medicine · 2025Article
- The genetic analysis of eight families with hemophilia B in Mongolia: Identification of two novel mutation.Molecular genetics & genomic medicine · 2024Article
- Clinical Analysis and Mental Health Survey of Hemophilia Carriers: a Cross-sectional Study.Current medical science · 2024Article
- Clinical analysis and quality of life survey of hemophilia B patients in the central and western regions of China.Frontiers in pediatrics · 2024Article
- Defining the molecular pathology and consequent phenotypes in Egyptian HB patients.Journal, genetic engineering & biotechnology · 2021Article
- Molecular analysis of 76 Chinese hemophilia B pedigrees and the identification of 10 novel mutations.Molecular genetics & genomic medicine · 2020Article
- Evaluation of CDC's Hemophilia Surveillance Program - Universal Data Collection (1998-2011) and Community Counts (2011-2019), United States.Morbidity and mortality weekly report. Surveillance summaries (Washington, D.C. : 2002) · 2020Article
- Molecular characterization of hemophilia B patients in Colombia.Molecular genetics & genomic medicine · 2020Article
- Health status and quality of life in patients with severe hemophilia A: A cross-sectional survey.Hematology reports · 2019Article
- A genetic analysis of 23 Chinese patients with hemophilia B.Scientific reports · 2016Article
- Hemophilia B: molecular pathogenesis and mutation analysis.Journal of thrombosis and haemostasis : JTH · 2015Review
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Authors and funding
6 authors.
Funding
Abstract
Hemophilia B (HB) is a disorder resulting from genetic mutations in the Factor 9 gene (F9). Genotyping of HB patients is important for genetic counseling and patient management. Here we report a study of mutations identified in a large sample of HB patients in the US. Patients were enrolled through an inhibitor surveillance study at 17 hemophilia treatment centers. A total of 87 unique mutations were identified from 225 of the 226 patients, including deletions, insertions, and point mutations. Point mutations were distributed throughout the F9 gene and were found in 86% of the patients. Of these mutations, 24 were recurrent in the population, and 3 of them (c.316G>A, c.1025C>T, and c.1328T>A) accounted for 84 patients (37.1%). Haplotype analysis revealed that the high recurrence arose from a founder effect. The severity of HB was found to correlate with the type of mutation. Inhibitors developed only in severe cases with large deletions and nonsense mutations. None of the mild or moderate patients developed inhibitors. Our results provide a resource describing F9 mutations in US HB patients and confirm previous findings that patients bearing large deletions and nonsense mutations are at high risk of developing inhibitors.
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