Rare bleeding disorders have significantly increased in prevalence over the last few decades, yet little is known about their management. Palla, Peyvandi, and Shapiro (2015) report that healthcare professionals often have little diagnostic and treatment experience when it comes to factors of bleeding disorders, leading to patient morbidity and mortality. The authors report that standardization, customization of coagulation assays, full genome sequencing and global clotting assays significantly improve the diagnosis of patients with these rare bleeding disorders (Palla, Peyvandi, & Shapiro, 2015). All of these techniques listed above are highly dependent on new and emerging technologies, coupled with advanced medical researches on bleeding disorders. For instance, Palla, Peyvandi, and Shapiro (2015) report that new therapeutic modalities that utilize both recombinant and plasma-derived techniques are emerging in correlation to the advancements in technology.
Hemophilia is an example of a rare bleeding disorder that is characterized by deficiencies in the blood clotting factors. There are two types of hemophilia, i.e., hemophilia A which is caused by a flaw in the clotting factor VIII and hemophilia B caused by a deficiency in clotting factor IX. Of the two forms of hemophilia, hemophilia A is more pronounced, affecting around 75% of all hemophiliacs. Kruse-Jarres et al. (2017) conducted a review on the treatment protocol for hemophilia A as based on evidence-based practices. The study describes how the diagnosis for hemophilia A should be carried out. It reports that increased suspicion should be considered in patients who are elderly and peripartum and postpartum women who report the recent onset of abnormal bleeding.
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Clinical diagnosis should be made by confirming and quantifying the factor VIII inhibitor using the Bethesda assay, Nijmegen assay or by enzyme-linked immunosorbent assay with anti-FVIII antibody. The authors further state three principles of management in hemophilia A; controlling and preventing bleeding, elimination of the inhibitor and treatment of the underlying disease. Invasive procedures should be avoided since bleeding resulting from the proceedings may be uncontrolled unless hemostatic therapy is applied. The study acknowledges treatment using human FVIII replacement; however, titer inhibitors need to be substantially lowered to less than five for the procedure to be effective. In cases where the inhibitor levels are high, porcine FVIII proves more effective in achieving measurable FVIII levels, and its recombinant form was approved for use in the United States, Canada, and Europe.
Janbain, Leissinger, and Kruse-Jarres (2015) conducted similar research on emerging treatment options for hemophilia A. They compound the initial study in that hemostatic therapy is critical in the treatment of the condition. Despite the similarity in the hemostatic therapy, Janbain, Leissinger, and Kruse-Jarres further look into the treatment noting the specifications for its implementation. They note that the treatment is dependent on the bleeding site and severity. They associate minor bleeding with titer inhibitors of less than five BU. These people do not require any surgery and treatment using desmopressin can be sufficient to control the slight bleeding. In major bleeding cases, human FVIII concentrates and desmopressin can serve as a first line treatment for these patients. However, the effectiveness of the therapy is reduced in patients with high titer autoantibodies.
Away from research-oriented studies, modern technology has also been utilized in the treatment of hemophilia. Giangrande (2016) reports that gene therapy technology has been successfully adopted in patients with hemophilia B. In his study, Giangrande compares gene therapy to longer-acting factor concentrates in the treatment of hemophilia. He acknowledges that longer-acting products are widely used and provide the primary stream treatment for hemophilia; however, gene therapy will slowly gain traction in the next few years to overtake the adoption of longer-acting compounds. This is because the use of gene therapy is still in its early stages of development; however, from the handful of participants, sustained levels of FIX were reported for periods exceeding four years. This is undoubtedly a factor that may accelerate the adoption of gene therapy, though technological advancements may play a significant part since cheaper, more efficient techniques may be developed.
Relating my topic to the concepts learned in Hematology CLT201, uncontrolled hemophilia can result in cases of secondary anemia. This is because hemophilia affects blood clotting process that may aggravate erythrocyte loss leading to anemia. Moreover, just as the diagnosis of the various types of anemia is dependent on technology and differential diagnoses, hemophilia is also consistent with these issues. However, hemophilia is more challenging to diagnose and treat as compared to anemia effectively. Technological advancements have been adopted in the healthcare sector to facilitate treatment. While some cases of anemia are resolved via a bone marrow transplant, the equivalent of this in hemophilia involves gene therapy; however, the latter is yet to gain traction as only limited studies have been done pertaining that field of treatment in regards to hemophilia.
Moreover, the DNA plays a significant role in the occurrence of erythrocyte abnormalities and also, hemophilia. A disorder of the DNA predisposes an individual to develop genetic conditions. For instance, sickle cell anemia is a trait that can be inherited as it is characterized by a dysfunction of the RNA’s ability to transcribe proteins by relaying impulses from the DNA structure. DNA is substantially passed down from the host organism to its offsprings, thus resulting in the possibility of the condition occurring across generations. Finally, lab tests remain the only guaranteed way of diagnosing both conditions and provide the fundamental basis of assessing the effectiveness of treatment.
From the research discussed above, it will benefit the public as a whole in controlling the different genetic diseases. Hemophilia A is more common as compared to hemophilia B, and both of these conditions are fatal. With modern technologies, however, the effects of these life-threatening conditions can be mitigated. Techniques such as gene therapy have been made possible due to technological advancements in the area of medicine, thus improving the quality of service being offered by medical practitioners. At the moment, it is expensive to manage the various congenital disorders due to the bottleneck in technological adoption in healthcare services. This is because at the moment the technology to make this possible is costly, leaving it viable for only the wealthy moguls. This disparity hinders equitable distribution to all, hence limiting its progress.
Moreover, developing countries lack the necessary infrastructure to undertake such a task. However, with more research and technological advancements, cheaper more efficient techniques will be developed that will promote universal access to health care services, irrespective of the economic background one has. Lastly, research will also improve the quality of living for people diagnosed with hereditary diseases, let alone hemophilia, through the adoption of a standard treatment protocol across the globe. All in all, research in the area of hemophilia treatment has come a long way and has significantly affected how diagnosis and treatment are being carried out. However, several essential gaps need to be addressed in future research and development; among them includes the use of more than one therapy in the management of the condition. For instance, the use of factor concentrates coupled with gene therapy may be the future route researchers may wish to follow. Additionally, the samples used in the studies were inadequate to make a generalized conclusion from the findings of the studies.
References
Giangrande, P. (2016, July). The future of hemophilia treatment: longer-acting factor concentrates versus gene therapy. In Seminars in thrombosis and hemostasis (Vol. 42, No. 05, pp. 513-517). Thieme Medical Publishers.
Janbain, M., Leissinger, C. A., & Kruse-Jarres, R. (2015). Acquired hemophilia A: emerging treatment options. Journal of blood medicine , 6 , 143.
Kruse‐Jarres, R., Kempton, C. L., Baudo, F., Collins, P. W., Knoebl, P., Leissinger, C. A., ... & Kessler, C. M. (2017). Acquired hemophilia A: updated review of evidence and treatment guidance. American Journal of Hematology , 92 (7), 695-705.
Palla, R., Peyvandi, F., & Shapiro, A. D. (2015). Rare bleeding disorders: diagnosis and treatment. Blood , 125 (13), 2052-2061.
