Routine screening of infants born to known hemophilia carriers includes a factor VIII (FVIII) level. In routine practice, mild FVIII deficiency variants may be missed by laboratories that exclusively use a one-stage activated partial thromboplastin time-based activity assay. This case illustrates such a possibility with a discrepancy between the one-stage and two-stage assays performed on a child who carries the Arg(531) --> His mutation.
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http://dx.doi.org/10.1097/mbc.0b013e328338db53 | DOI Listing |
Aliment Pharmacol Ther
January 2025
Division of Gastroenterology and Hepatology, Department of Medicine, University of Pennsylvania, Philadelphia, USA.
Background And Aims: We assessed clinical, procoagulant and genetic risk factors and clinical outcomes in dabigatran-treated patients with non-tumoural acute and acute-on-chronic portal vein thrombosis (PVT).
Methods: Patients with a new diagnosis of non-tumoural acute and acute-on-chronic PVT between January 2021 and January 2024 (aged ≥ 18 years) in those without/with cirrhosis (Child-Pugh (CP)-A/B/C ≤ 10) were started on dabigatran and followed and compared with those on vitamin K antagonist (VKA) and untreated individuals.
Results: Dabigatran was prescribed in 119 patients with PVT type 1 (61, 51.
Silent myocardial infarction (SMI) is a type of myocardial infarction that occurs in the absence of, or with, minimal symptoms, often leading to a delay in medical treatment. There is a lack of data regarding the incidence and/or prevalence of a left ventricular (LV) thrombus in those who have had an SMI, due to the rarity of such cases. We describe a case of an SMI with LV thrombus in an otherwise healthy young man, whose first presentation was with stroke-type symptoms and who was also later found to have a Factor V Leiden (FVL) mutation and raised factor VIII levels.
View Article and Find Full Text PDFCureus
December 2024
Department of Medicine, Assam Medical College and Hospital, Dibrugarh, IND.
Background and objective Hemophilia A (HA) is a genetic bleeding disorder caused by a lack of factor VIII (FVIII) and is associated with frequent bleeding and joint damage. Traditional intravenous treatments for this condition are cumbersome and can lead to complications. Emicizumab, a bispecific monoclonal antibody, offers a promising subcutaneous alternative with potential safety and efficacy-related benefits.
View Article and Find Full Text PDFZhongguo Shi Yan Xue Ye Xue Za Zhi
December 2024
Department of Hematology, The Second Hospital of Shanxi Medical University, Taiyuan 030000, Shanxi Province, China.
Objective: To investigate the clinical phenotype and molecular pathogenic mechanism of a hereditary coagulation factor V deficiency (FⅤD) family.
Methods: A phase I assay was used to measure coagulation factors II, V, VII, VIII, IX, X, Ⅺ, Ⅻ (FⅡ∶C, FⅤ∶C, FⅦ∶C, FⅧ∶C, FⅨ∶C, FⅩ∶C, FⅪ∶C, FⅫ∶C), activated partial thromboplastin time (APTT) and prothrombin time (PT) to determine the clinical phenotype and molecular pathogenesis of F VD. Prothrombin time (PT) were used for phenotypic identification; high-throughput exome sequencing was applied to screen the whole gene variants, and Sanger sequencing was used to verify the suspected variants in gene; MutationTaster, PolyPhen-2 bioinformatics software was used to predict the pathogenicity of the variants, ClustalX software was used to analyze the amino acid conservatism, and PyMol software was used to simulate the model of the mutant protein.
Introduction: Hereditary bleeding disorders stem from the absence or insufficient levels of particular clotting proteins, essential for facilitating coagulation in the clotting cascade. Among the most prevalent are hemophilia A (deficiency of Factor VIII), hemophilia B (deficiency of Factor IX), and von Willebrand disease. Management of pharmacoresistant epilepsy is more difficult in a patient with bleeding disorder due to increased risk of bleeding during surgery.
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