Clinical manifestation of hemophilia A in the absence of mutations in the F8 gene that encodes FVIII: role of microRNAs.

CONCLUSION: These data support a role for microRNAs in fine-tuning F8 gene regulation. Based on our findings, our current model suggests that in HA cases where the F8 gene is normal and is predicted to express normal levels of FVIII, F8 mRNA 3' UTR targeting miRNAs may be responsible for a FVIII-deficiency phenotype clinically manifesting as HA. PMID: 31785023 [PubMed - as supplied by publisher]
Source: Transfusion - Category: Hematology Authors: Tags: Transfusion Source Type: research

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Authors: Rodriguez-Merchan EC Abstract Introduction: Hemophilia is a very expensive disease. Ameliorations in the management of hemophilia causes increased patient survival, more complex disease management, and augmented treatment costs. A literature search related to the cost of hemophilia was analyzed.Covered areas: Clotting factor concentrates, which are the keystone of management, are costly. In fact, the yearly expenditure in the USA is 250,000 USD per adult patient. Indirect expenses also play a part to the economic load, and include lost productive capacity, uncompensated caretaker tariffs, and hemophilia-re...
Source: Expert Review of Hematology - Category: Hematology Tags: Expert Rev Hematol Source Type: research
We are pleased to comment on the recent Letter to the Editor entitled “Mutation of factor IX Cys178 is intolerant and may cause severe hemophilia B”. Wang and co-workers reported the novel c.534 T > A (p.Cys178Ter) nonsense mutation in F9 gene found in a boy presenting with a severe hemophilia B (HB) form (coagulant activity
Source: Thrombosis Research - Category: Hematology Authors: Tags: Letter to the Editors-in-Chief Source Type: research
Abstract Acquired hemophilia A (AHA) is a rare, life-threatening bleeding disorder caused by autoantibodies against coagulation factor VIII (FVIII). Immunosuppressive therapy for AHA aims to arrest bleeding by eliminating FVIII inhibitors. Factor VIII activity overshoot after complete remission (CR) has been reported anecdotally, but details remain unclear. We retrospectively analyzed data from 17 patients with AHA who achieved CR under immunosuppressive therapy between 2009 and 2019 at Gunma University Hospital. FVIII activity overshoot was defined as ≥ 150%. All 17 patients had low FVIII activit...
Source: International Journal of Hematology - Category: Hematology Authors: Tags: Int J Hematol Source Type: research
-- Wintry climates and cold viruses can lead to frequent nosebleeds, says the National Hemophilia Foundation. To prevent nosebleeds during winter, the foundation suggests: Use a humidifier to moisturize the air. Use a nasal saline spray or...
Source: Drugs.com - Daily MedNews - Category: General Medicine Source Type: news
We describe here recent exciting studies, most still pre-clinical, that address FVIII immunogenicity and suggest novel interventions to prevent or reverse inhibitor development. Studies of FVIII uptake, processing and presentation on antigen-presenting cells, epitope mapping, and the roles of complement, heme, von Willebrand factor, glycans, and the microbiome in FVIII immunogenicity are elucidating mechanisms of primary and secondary immune responses and suggesting additional novel targets. Promising tolerogenic therapies include development of FVIII-Fc fusion proteins, nanoparticle-based therapies, oral tolerance, and en...
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
oup Abstract The incidence of FIX inhibitors in severe hemophilia B (SHB) is not well defined. Frequencies of 3-5% have been reported but most studies to date were small, including patients with different severities, and without prospective follow-up for inhibitor incidence. Study objective was to investigate inhibitor incidence in patients with SHB followed up to 500 exposure days (ED), the frequency of allergic reactions, and the relationship with genotypes. Consecutive previously untreated patients (PUPs) with SHB enrolled into the PedNet cohort were included. Detailed data was collected for the first 50 ED, fo...
Source: Haematologica - Category: Hematology Authors: Tags: Haematologica Source Type: research
(Queen Mary University of London) A breakthrough gene therapy treatment for Haemophilia A has been shown to offer long-term benefits that have already transformed the lives of 13 men in the UK.
Source: EurekAlert! - Medicine and Health - Category: International Medicine & Public Health Source Type: news
Title: Gene Therapy May Be Long-Term Cure for Type of HemophiliaCategory: Health NewsCreated: 1/2/2020 12:00:00 AMLast Editorial Review: 1/3/2020 12:00:00 AM
Source: MedicineNet Chronic Pain General - Category: Anesthesiology Source Type: news
Source: Indian Journal of Pediatrics - Category: Pediatrics Source Type: research
THURSDAY, Jan. 2, 2020 -- A new gene therapy appears to serve as a functional cure for the most common type of hemophilia, early clinical trial results indicate. Patients who received the one-time intravenous therapy continue to have a more than...
Source: Drugs.com - Daily MedNews - Category: General Medicine Source Type: news
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