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Hemophilia: a Rare Disease
Hemophilia is a rare inherent genetic disorder that affects the blood-clotting processes. Patients suffering from this disease cannot form blood clots properly, which brings the possibility of any injury or surgery being fatal due to the inability to stop the bleeding. Three types of hemophilia are differentiated by the lack or absence of different blood clotting factors. Type A is connected to a lack of factor VII, type B factor IX, and type C factor XI. According to Srivastava et al., despite the advances in treating hemophilia, including medicaments and gene therapy, many patients die before adulthood due to a lack of awareness. Therefore, it is important to continue advancements in treating to make it more available and affordable and informing the public and medical professionals about hemophilia.
General Overview of Hemophilia Management
Hemophilia is an incurable genetic disease at the present moment; thus, even the word cure might not be appropriate. Therapy and management of this disorder first mainly lie in providing the concentrates of blood clotting factors or hormones that stimulate the production of these factors, according to Srivastava et al. It is commonly referred as replacement therapy, and requires constant monitoring of the patients condition and adjustments based on their needs. It is administered after genetic evaluation, and often supported by hemostasis rebalancing drugs to achieve effectiveness of the concentrates. Prophylaxis is sometimes also used to manage the condition if needed. It is applied to change the flow but restricted natural history of bleeding. Overall, the effective treatment of hemophilia encompasses several different methods and requires a comprehensive framework to monitor the patient and adjust to their condition accordingly. It may also include mental health treatment and advocacy to protect the patient and provide them with the needed resources.
Emicizumab: Non-Replacement Treatment
Aside from the restricted and supplementary use of prophylaxis, according Mannucci, emicizumab is a new promising treatment o hemophilia. With this new advancement, patients are expected to live about ten years less than the average male expectancy, prolonging it. Emicizumab or a bispecific monoclonal antibody focuses on promotes the production of trombin, blood clots, by mimicking a blood-clotting protein FVIIIa. It works despite any deficiency in factors or any presence of inhibitors. This property allows for the patients with the inhibitors to be effectively treated with less frequency of the drug administration.
Gene Therapy for Hemophilia
Being a genetic disease, hemophilia attracts a lot of genetic research into its treatment and prevention, according to Batty and Lillicrap. It is another alternative for replacement therapy, which also has a potential for the patient not to be stuck in the frequent and expensive administration of the drugs and check-ups. According to Batty and Lillicrap (2019), All successful, pre-clinical and clinical studies to date have utilized recombinant adeno-associated viral (AAV) vectors for factor VIII or IX hepatocyte transduction (p. 95). In all of these trials, patients reported a significant improvement in the quality of their lives. No side effects, toxicity, or carcinogenic factors were not found during the research and its aftermath, which provides hope for this direction in hemophilia treatment research and possibility of expanding the options for the patients.
Importance of Awareness and Support for the Patients
According to Srivastava et al., many people suffering from hemophilia may not be aware of the treatment options or have necessary funds to cover it. Therefore, they argue that it is essential to raise the awareness and provide advocacy for the patients, demanding the coverage from the government. Investment in research on hemophilia can also not only provide more options, but possibly make them more affordable for the patients, as their life span and overall quality of life depend on these treatments.
Works Cited
Batty, Paul, and David Lillicrap. Advances and challenges for hemophilia gene therapy. Human molecular genetics 28.R1 (2019): R95-R101. Web.
Mannucci, Pier Mannuccio. Hemophilia therapy: the future has begun. Haematologica 105.3 (2020): 545. Web.
Srivastava, Alok, et al. WFH guidelines for the management of hemophilia. Haemophilia 26 (2020): 1-158. Web.
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