From the Research
The ALKBH8 gene is associated with bleeding disorders due to its role in tRNA modification, which affects protein synthesis in the coagulation pathway, and management typically involves supportive care similar to other bleeding disorders, including transfusion of blood products during bleeding episodes, avoidance of antiplatelet medications and NSAIDs, and possibly prophylactic treatment before surgical procedures, as supported by the most recent study in 2024 1. The condition occurs because ALKBH8 normally functions as a tRNA methyltransferase that modifies specific tRNAs needed for proper translation of proteins involved in blood clotting. When ALKBH8 is dysfunctional, these coagulation factors may be improperly synthesized, leading to defective blood clotting. Currently, there is no specific gene therapy for ALKBH8-related bleeding disorders. Genetic counseling is recommended for affected families due to the hereditary nature of this condition. Early diagnosis through genetic testing can help implement preventive measures and appropriate treatment plans for affected individuals, as also suggested by studies on the role of ALKBH8 in other diseases, such as intellectual developmental disability 2 and its protective role against environmental stressors like naphthalene 3. However, the most recent and highest quality study, published in 2024, highlights the importance of ALKBH8 in neurological function through oxidative stress regulation, which may have implications for the management of ALKBH8-related bleeding disorders 1. Key aspects of management include:
- Transfusion of blood products during bleeding episodes
- Avoidance of antiplatelet medications and NSAIDs
- Possibly prophylactic treatment before surgical procedures
- Genetic counseling for affected families
- Early diagnosis through genetic testing to implement preventive measures and appropriate treatment plans. It is essential to prioritize the most recent and highest quality study, which in this case is from 2024 1, to guide management decisions and ensure the best possible outcomes for patients with ALKBH8-related bleeding disorders.