A5003199073- Hemophilia Treatment and Research
- Cancer-related gene regulation
- Platelet Disorders and Treatments
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Quality and Safety in Healthcare
- Chronic Myeloid Leukemia Treatments
- Trauma, Hemostasis, Coagulopathy, Resuscitation
- Blood transfusion and management
Université Claude Bernard Lyon 1
2020-2023
Hospices Civils de Lyon
2020-2023
Université de Lorraine
2018
Abstract Introduction With current molecular diagnosis, about 1 to 5% of haemophilia A (HA) patients remain genetically unresolved. In these cases, deep intronic variation or structural disrupting the F8 gene could be causal. Aim To identify causal in four unresolved mild‐to‐severe HA using an mRNA analysis approach. Methods Ectopic was performed unrelated patients. An vitro minigene assay order confirm deleterious splicing impact each identified. Results all probands, revealed aberrant...
Abstract Introduction Conventional genetic investigation fails to identify the F8 causal variant in 2.5%‐10% of haemophilia A (HA) patients with non‐severe phenotypes. In these cases, deep intronic variants could be causal. Aim To pathogenic genetically unresolved families HA analysed haematology laboratory Hospices Civils de Lyon. Methods The whole was by next generation sequencing. impact candidate identified assessed using both silico analysis (MaxEntScan and spliceAI) functional (RNA or...
The Lyon Hospitals Board (HCL) hemostasis laboratory has shifted from a frequentist to long-term Bayesian approach IQC results management, using the Hemohub® software of Werfen corporation, which hosts requisite tools. plans based on supplier specifications proved effective in managing analytic risk line with ISO 15189 standard. Long-term control and monitoring been validated by acceptable feedback EQA organization used community.