Prothrombin deficiency has been known to occur in association with lupus inhibitors for over 25 years. We studied 21 patients with lupus inhibitors and found that four of five with prothrombin deficiency and ten of 16 with quantitatively normal prothrombin had abnormal prothrombin crossed-immunoelectrophoresis (CIEP) characterized by material moving slower in the first dimension of electrophoresis than normal prothrombin. In two patients with prothrombin deficiency, all prothrombin measured by quantitative assay and all slow-moving material on CIEP were removed by treatment with Staphylococcal protein A (SPA). These patients had free antibody, which bound to normal plasma prothrombin, forming larger amounts of slow-moving material on CIEP. A third patient with prothrombin deficiency had only partial removal of prothrombin after SPA treatment. Two patients with quantitatively normal prothrombin had all slow-moving material on CIEP and about one fourth of the prothrombin by quantitative assay removed by SPA treatment. There was no correlation among the strength of the inhibitor, the presence of a "cofactor effect," and the prothrombin abnormality. These data suggest that heterogeneous antiprothrombin antibodies, with or without prothrombin deficiency, are present in the majority of patients with lupus inhibitors.
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Cureus
December 2024
Department of Surgery, King Abdulaziz Specialist Hospital, Taif, SAU.
Congenital factor VII (FVII) deficiency is a rare coagulation disorder that increases the risk of bleeding complications during surgery. Although laparoscopic sleeve gastrectomy (LSG) is the most common metabolic bariatric surgery (MBS), it is rarely performed in patients with congenital coagulation disorders such as FVII deficiency, due to the high risk of intraoperative and postoperative bleeding. We report the case of a 57-year-old female with class II obesity (BMI 37.
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January 2025
Clinical Pathology Department, Faculty of Medicine, Assiut University, Assiut, Egypt.
Background: Unexplained recurrent miscarriage (RM) is still an unsolved reproductive health problem. Inherited thrombophilias have been one of the causes. Mutation in genes encoding coagulation proteins, including prothrombin (PT G20210A) and methylenetetrahydrofolate reductase (MTHFR) genes, increase tendency for venous thromboembolism.
View Article and Find Full Text PDFMath Biosci Eng
December 2024
Laboratory of Optimization, Design, and Advanced Control, School of Chemical Engineering, Universidade Estadual de Campinas, Campinas, São Paulo, Brazil.
In the pursuit of personalized medicine, there is a growing demand for computational models with parameters that are easily obtainable to accelerate the development of potential solutions. Blood tests, owing to their affordability, accessibility, and routine use in healthcare, offer valuable biomarkers for assessing hemostatic balance in thrombotic and bleeding disorders. Incorporating these biomarkers into computational models of blood coagulation is crucial for creating patient-specific models, which allow for the analysis of the influence of these biomarkers on clot formation.
View Article and Find Full Text PDFLife (Basel)
November 2024
Onco-Hematology, Cell and Gene Therapy and Bone Marrow Transplant Clinic Area, Bambino Gesù Children's Hospital, IRCCS, 00165 Rome, Italy.
Inherited factor VII deficiency is the most common rare bleeding disorder, affecting about 1/500,000 individuals without gender predilection. Most of the patients with FVII 20-50% are asymptomatic, but post-traumatic or post-surgical bleeding may often occur since there is not an exact correlation between FVII plasma levels and the bleeding phenotype. We enrolled 19 children and adolescents with FVII levels of 20-35% and 33 controls.
View Article and Find Full Text PDFZhonghua Xue Ye Xue Za Zhi
December 2024
Department of Clinical Laboratory, Key Laboratory of Clinical Laboratory Diagnosis and Translational Research of Zhejiang Province, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou 325015, China.
This study aimed to primarily discuss the pathogenesis of hereditary coagulation factor Ⅴ (FⅤ) deficiency in a family with a consanguineous cousin marriage. The coagulation indices of the pedigree (three generations with seven individuals) and the thrombin levels of the proband and his father were assessed. All exons of the F5 gene were analyzed with Sanger sequencing, and a new mutation was confirmed with reverse sequencing.
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