ArticleBMC medical genetics2008
Mutation spectrum of 122 hemophilia A families from Taiwanese population by LD-PCR, DHPLC, multiplex PCR and evaluating the clinical application of HRM.
Article in BMC medical genetics, 2008. 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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13 citing papers in PubMed, 44 citations in OpenAlex.
- 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
- Application of capillary gel electrophoresis in detection of Factor VIII gene intron 22 inversion of hemophilia A.Journal of hematopathology · 2025Article
- Development of a high-resolution melt-based assay to rapidly detect the azole-resistantCurrent medical mycology · 2023Article
- Molecular Diagnosis of Hemophilia A and Pathogenesis of Novel F8 Variants in Shanxi, China.Global medical genetics · 2023Article
- Insights into the Molecular Genetic of Hemophilia A and Hemophilia B: The Relevance of Genetic Testing in Routine Clinical Practice.Hamostaseologie · 2022Review
- Article
- Factor VIII inhibitor development in Egyptian hemophilia patients: does intron 22 inversion mutation play a role?Italian journal of pediatrics · 2020Article
- High resolution melting for F9 gene mutation analysis in patients with haemophilia B.Blood transfusion = Trasfusione del sangue · 2019Article
- Severe Hemophilia A in a Male Old English Sheep Dog with a C→T Transition that Created a Premature Stop Codon in Factor VIII.Comparative medicine · 2016Article
- Complexity and diversity of F8 genetic variations in the 1000 genomes.Journal of thrombosis and haemostasis : JTH · 2015Article
- High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort.BMC medical genetics · 2012Article
- LightCycler technology in molecular diagnostics.The Journal of molecular diagnostics : JMD · 2009Article
- Systematic molecular analysis of hemophilia A patients from Colombia.Genetics and molecular biologyArticle
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHemophilia A represents the most common and severe inherited hemorrhagic disorder. It is caused by mutations in the F8 gene, which leads to a deficiency or dysfunctional factor VIII protein, an essential cofactor in the factor X activation complex.
methodsWe used long-distance polymerase chain reaction and denaturing high performance liquid chromatography for mutation scanning of the F8 gene. We designed the competitive multiplex PCR to identify the carrier with exonal deletions. In order to facilitate throughput and minimize the cost of mutation scanning, we also evaluated a new mutation scanning technique, high resolution melting analysis (HRM), as an alternative screening method.
resultsWe presented the results of detailed screening of 122 Taiwanese families with hemophilia A and reported twenty-nine novel mutations. There was one family identified with whole exons deletion, and the carriers were successfully recognized by multiplex PCR. By HRM, the different melting curve patterns were easily identified in 25 out of 28 cases (89%) and 15 out of 15 (100%) carriers. The sensitivity was 93 % (40/43). The overall mutation detection rate of hemophilia A was 100% in this study.
conclusionWe proposed a diagnostic strategy for hemophilia A genetic diagnosis. We consider HRM as a powerful screening tool that would provide us with a more cost-effective protocol for hemophilia A mutation identification.
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