Boy with bruises whose parents were 'accused of abusing him' diagnosed with a rare blood condition

Jack Fearns, of Cheshire, was six months old when his parents, Tom and Darryl-Anne Ferns, felt interrogated by doctors. Jack was diagnosed with haemophilia.
Source: the Mail online | Health - Category: Consumer Health News Source Type: news

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Abstract Emicizumab is a humanized anti-FIX/FX (factor IXa/X) bispecific monoclonal antibody that mimics FVIIIa (activated factor VIII) cofactor function. The hemostatic efficacy of emicizumab has been confirmed in clinical studies of patients with hemophilia A, irrespective of the presence of FVIII inhibitors. Emicizumab differs in some properties from FVIIIa molecule. Emicizumab requires no activation by thrombin and is not inactivated by activated protein C, but emicizumab-mediated coagulation is regulatable and maintains hemostasis. A small amount of FIXa (activated factor IX) is required to initiate emicizuma...
Source: Arteriosclerosis, Thrombosis and Vascular Biology - Category: Cardiology Authors: Tags: Arterioscler Thromb Vasc Biol Source Type: research
Hemophilia and von Willebrand disease (VWD) are the most common congenital coagulation factor deficiencies. Patients with these disorders who experience bleeding complications are often initially managed in the emergency department (ED).
Source: The Journal of Emergency Medicine - Category: Emergency Medicine Authors: Tags: Clinical Reviews Source Type: research
Acquired hemophilia A (AHA) is a rare autoimmune disease due to acquired IgG1-4 autoantibodies against coagulation factor VIII (FVIII). This causes patients, who have negative family and personal histories, to present with a sudden onset of heavy bleeding.1 –3 Although rare, the presence of antibodies against factors V and IX is possible.4
Source: Pediatrics and Neonatology - Category: Perinatology & Neonatology Authors: Tags: Letter to the Editor Source Type: research
April 01, 2020 -- The U.S. Food and Drug Administration today approved Sevenfact [coagulation factor VIIa (recombinant)-jncw] for the treatment and control of bleeding episodes occurring in adults and adolescents 12 years of age and older with...
Source: Drugs.com - New Drug Approvals - Category: Drugs & Pharmacology Source Type: news
​The wrist is not commonly aspirated in the emergency department, but emergent arthrocentesis may be indicated for extreme or concerning cases, and tapping the wrist to determine the underlying pathology or relieve pain may be of great value. The synovial fluid from the joint space can be analyzed for crystals, infection, and blood. This information may help determine the overall plan and aid in decision-making and consultation. The ultimate treatment plan may include admission, intravenous antibiotics, multiple aspirations, and even surgical washout.A swollen, painful wrist that is hot to the touch is concerning for sep...
Source: The Procedural Pause - Category: Emergency Medicine Tags: Blog Posts Source Type: blogs
The objective was to review the characteristics and the current understanding of mechanisms contributing to assay discrepancy in DHA. METHODS: Characteristics of the DHA patients treated were examined by retrospective chart review. In addition, a literature review was performed to determine the current understanding of DHA. RESULTS: Three cases of DHA were diagnosed based on bleeding phenotype: 2 cases represented missed diagnoses of HA, and 1 represented misclassification of hemophilia severity. The revised diagnosis and classification of hemophilia directly affected clinical management. Review of the literature...
Source: American Journal of Clinical Pathology - Category: Pathology Authors: Tags: Am J Clin Pathol Source Type: research
Conclusion: Fascial therapy does not appear to produce elbow hemarthrosis in patients with hemophilia. This treatment can improve joint pain, range of motion, and elbow status in patients with hemophilia. PMID: 32223585 [PubMed - as supplied by publisher]
Source: Physiotherapy Theory and Practice - Category: Physiotherapy Authors: Tags: Physiother Theory Pract Source Type: research
Condition:   Hemophilia A Intervention:   Biological: valoctocogene roxaparvovec Sponsor:   BioMarin Pharmaceutical Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
The development of an immune response against therapeutic factor VIII is the major complication in hemophilia A patients. Oligomannose carbohydrates at N239 and/or N2118 on factor VIII allow its binding to the macrophage mannose receptor expressed on human dendritic cells, thereby leading to factor VIII endocytosis and presentation to CD4+ T lymphocytes. Here, we investigated whether altering the interaction of factor VIII with mannose-sensitive receptors on antigen-presenting cells may be a strategy to reduce factor VIII immunogenicity. Gene transfer experiments in factor VIII-deficient mice indicated that N239Q and/or N2...
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
Conclusions: Low self-esteem in hemophilia patients indicates the importance of lifelong psychosocial support. Patients with pathologic HJHS are at risk of low-esteem. Using OSIQ with HJHS during follow-up of hemophilia patients may be useful for management.
Source: Journal of Pediatric Hematology Oncology - Category: Hematology Tags: Online Articles: Original Articles Source Type: research
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