Clinical Issues in Women with Inherited Bleeding Disorders

Various inherited bleeding disorders deserve careful medical management due to their implications in women’s health. In both hemophilia A and B, almost exclusively, males are affected while carrier females are generally asymptomatic. Nevertheless, carriers may present important bleeding tendencies, which can eventually constitute a serious threat to life, especially after surgery or postpartum. In addition, in rare but significant cases, some genetic mechanisms have been found to cause hemophilia in females. Aside from von Willebrand disease, which is the most widespread and better described hemorrhagic condition in women, platelet disorders and some rare clotting deficiencies cause a wide variety of mucocutaneous bleedings, menorrhagia, or postpartum bleeding, hence constituting an important health risk. A review of the genetic and pathophysiological aspects as well as main clinical complications of all these conditions will allow for preventive practices aimed at improving the quality of life of women with bleeding disorders

Genetic biomarkers related to hemarthrosis, inflammation, and cartilage structure in pediatric patients with hemophilic arthropathy

Abstract Background The pathophysiology of hemophilic arthropathy is complex and not completely understood. In this study, we aimed to identify biomarkers that can affect the hemophilic arthropathy severity. Methods Fifty patients were analyzed for biomarker frequencies; in 37 patients, articular symptoms were evaluated based on the physical joint examination score, and in 18, it was based on magnetic resonance imaging. Eight polymorphisms, namely FV 1691G>A, FII 20210G>A, MTHFR 677C>T and 1298A>C, TNFα‐308G>A and ‐238G>A, ACAN VNTR, and IL1RN*2‐VNTR were identified. Results Patients with the MTHFR 677TT genotype showed a higher number of affected joints (1.83 ± 0.9 vs. 0.55 ± 0.7 for CC; p = .023), whereas those with the MTHFR 1298AC genotype exhibited higher effusion according to two radiologists (0.90 ± 0.31/1.20 ± 0.63 vs. 0.38 ± 0.52/0.50 ± 0.53 for AA genotype; p = .043/0.036, respectively). In addition, patients with the TNFα‐308GA genotype had more subchondral cysts (0.75 ± 0.95 vs. 0.07 ± 0.26 for GG genotype; p = .041). Conclusions The distribution of risk genotypes for MTHFR and TNFα‐308GA suggests their association with clinical parameters of hemophilic arthropathy. Cohort studies are essential to verify these associations