Background and Objectives: Despite the vast heterogeneity in the genetic defects causing hemophilia A (HA), large intron inversions represent a major cause of disease, accounting for almost half of the cases of severe HA worldwide. We investigated the intron 22 and intron 1 inversion status in a cohort of Romanian unrelated patients with severe HA. Moreover, we evaluated the role of these inversions as relative risk factors in inhibitor occurrence. Materials and Methods: Inverse shifting—a polymerase chain reaction method was used to detect the presence of intron 22 and intron 1 inversions in 156 Romanian patients with HA. Results: Intron inversion 22 was found in 41.7% of the patients, while intron 1 inversion was detected in 3.2% of the patients. Overall, large intron inversions represented the molecular defect in 44.9% of the studied patients. Our findings are in accord with previously published reports from Eastern Europe countries and with other international studies. The risk of inhibitor development was higher in patients with inversion 1 compared to the patients with HA without any inversion detected. Conclusions: The current study demonstrates the major causative role of large intron inversions in severe HA in Romanian patients. Moreover, our study confirms the contribution of intron 1 inversion in inhibitor development.

This study presents a transversal investigation that we performed at Fundeni hospital (Bucharest, Romania) into the therapeutic benefits and efficacy of Emicizumab, a non-factor therapy, in the context of hemophilia A. Ten patients diagnosed with hemophilia A were closely monitored using clinical and laboratory resources during Emicizumab treatment, with an average of 12.8 months. Among these patients, six exhibited anti-factor VIII inhibitors, changing the medical strategy and adding complexity to their clinical profiles. A comprehensive approach was adopted to assess the coagulation status of patients under Emicizumab therapy. The study employed several key coagulation monitoring tools, including thrombin generation time (TGT) and thrombelastography (TEG). These methodologies generated valuable results in evaluating the patients’ coagulation profiles during the treatment regimen. Additionally, traditional coagulation assays were utilized to gain a profound understanding of the overall coagulation dynamics and to evaluate the therapeutic response. During prophylaxis with Emicizumab all patients experienced a reduced number of bleeding events. Moreover, a subset of these patients underwent major surgical procedures (orthopedic joint replacements, cholecystectomy) with successful outcomes. These findings underscore the potential of Emicizumab therapy as an effective option for hemophilia A patients, including those with inhibitors. Our research provides physicians several insights, offering a potential avenue for improved patients’ care and treatment strategies that translate in enhanced quality of life for hemophilia A patients undergoing Emicizumab therapy.

Background: Patients with myeloproliferative neoplasms (MPNs) experience a high disease-related symptom burden. A specific instrument to evaluate quality of life (QoL), i.e., the MPN Symptom Assessment Form Total Symptom Score (MPN-SAF TSS; MPN-10), was developed. We conducted the translation, cultural adaptation, and validation into Romanian of the MPN-10. Methods: We translated the MPN-10 and tested its psychometric properties. Results: We recruited 180 MPN patients: 66 polycythemia vera (36.67%), 61 essential thrombocythemia (33.89%), 51 primary and secondary myelofibrosis (SMF) (28.33%), and 2 MPN-unclassifiable (1.11%). The mean TSS was 19.51 ± 16.51 points. Fatigue, inactivity, and concentration problems were the most cumbersome symptoms. We detected scoring differences between MPN subtypes regarding weight loss (p < 0.001), fatigue (p = 0.006), early satiety (p = 0.007), night sweats (p = 0.047), pruritus (p = 0.05), and TSS (p = 0.021). There were strong positive associations between TSS and inactivity, fatigue, and concentration problems, and moderate negative correlations between QoL scores and all MPN-10 items. Cronbach’s α internal consistency coefficient was 0.855. The Kaiser–Meyer–Olkin construct validity test result was 0.870 and the Bartlett Sphericity Test was significant (p < 0.001). Symptom scores were loaded into one single factor according to the exploratory factor analysis. Conclusions: The Romanian MPN-10 version displayed excellent psychometric properties and is a reliable instrument for assessing symptom burden and QoL in Romanian MPN patients.

The development of factor VIII inhibitors (allo-antibodies) continues to be a major complication in the management of severe forms of hemophilia A, especially as far as treatment and treatment response monitoring is concerned. The need to implement a reliable laboratory assay is all the more obvious if major surgery occurs, when conventional tests (activated partial thromboplastin time APTT, prothrombin time PT, factor VIII level) are of no avail and there is a very fragile balance between bleeding and thrombosis. We report the case of a 32 year-old patient diagnosed with severe Hemophilia A, referred to the Comprehensive Center for the Diagnosis and Treatment of Hemophilia of the Fundeni Clinical Institute for a multidisciplinary assessment in view of a total left hip arthroplasty due to aseptic necrosis of the femoral neck. Workup showed a high inhibitor titer (>200 BU). Taking into consideration the interindividual variability of the response to bypassing agents, as well as the bleeding risk associated with a major orthopedic surgery, we used thromboelastography (TEG) to assess the patient’s response to aPCC (activated prothrombin complex concentrate) and rFVIIa (activated recombinant factor VII). The findings helped select the optimal replacement scheme to ensure perioperative hemostasis.

Despite the controversies regarding the appropriateness and justification of simultaneous bi- and multi-concomitant surgical procedures, this operative technique is increasingly undertaken for economic reasons. This paper discusses three cases of simultaneous interventions: two involving osteoarticular procedures and one involving a complex approach encompassing general and plastic surgery. The indications in emergency-driven cases are mandatory, life-saving, and limb-saving, and not subject to debate.

Immune thrombocytopenia (ITP) is an autoimmune disorder often triggered by prior viral infections. Although there is considerable evidence suggesting platelets act as passive bystanders during viral illnesses, they are increasingly recognised as active participants in their interactions with viruses. Our descriptive observational retrospective study, conducted at a tertiary hospital in Romania, aimed to evaluate the impact of viral infections on the incidence and outcomes of ITP. This cohort study focused on newly diagnosed ITP cases over a 10-year period, comparing two patient groups: the first group (I-306 patients) from the viral outbreak period (2020–2024) and the second (II-213 patients) from an epidemic-free period (2015–2019). Despite non-pharmacological measures implemented to prevent respiratory infection spread, the number (p = 0.05) and incidence (p = 0.001) of newly diagnosed ITP cases in hospitalised children increased significantly, mainly associated with severe acute respiratory syndrome coronavirus 2 (r = 0.967, p = 0.007), Epstein–Barr virus (r = 0.974, p = 0.004), and influenza (r = 0.901, p = 0.037), with mild thrombocytopenia (p = 0.028). The severity and persistence or chronicity of ITP remained unchanged. The rise in newly diagnosed ITP cases, even without increased severity or chronic evolution, may impose a substantial burden of medical and non-medical costs, highlighting the need for preventive measures during risky viral infection outbreaks.