Bleeding disorders, a cluster of conditions disrupting the blood clotting process, demand meticulous attention for timely intervention. Worldwide, thromboembolic conditions contributed to approximately 1 in 4 deaths in 2010 and are considered to be the primary cause of mortality.1 In-vitro Diagnostics (IVD) plays a significant role in identifying and managing these disorders early, fostering improved patient outcomes. Among the noteworthy bleeding disorders are hemophilia, von Willebrand disease, and thrombocytopenia. In 2022, over 257 thousand people were confirmed to have hemophilia worldwide. At that time a further 100 thousand people were living with von Willebrand disease.2 Both of these bleeding disorders are genetic diseases that prevent blood from clotting normally.
There are multiple types of hemophilia and bleeding disorders including hemophilia A, hemophilia B and various platelet disorders. Globally, hemophilia A has the largest number of people living with a bleeding disorder, followed by von Willebrand disease.
Let’s briefly understand these conditions:
Hemophilia:
Hemophilia, an inheritable bleeding disorder predominantly affecting males, manifests in inadequate clotting factors—Factor VIII (hemophilia A) or Factor IX (hemophilia B). Indicators include prolonged bleeding from minor wounds, joint and muscle bleeding, and heightened susceptibility to bruising. If left untreated, hemophilia may lead to severe joint impairment and life-threatening bleeding episodes.
Specialized coagulation assays, including Factor VIII and IX assays, stand as indispensable tools for diagnosing and monitoring hemophilia in the field of IVD. Consistent testing facilitates tailoring treatment plans, often involving factor replacement therapy, to forestall bleeding complications.
Von Willebrand Disease:
Von Willebrand disease (VWD), stemming from a deficiency or dysfunction of von Willebrand factor (VWF), a pivotal protein in platelet adhesion and blood clotting, is yet another hereditary bleeding disorder. Indications comprise nosebleeds, easy bruising, and prolonged bleeding from mucous membranes.
Sophisticated laboratory tests, such as von Willebrand factor antigen assay and ristocetin cofactor activity assay, contribute significantly to the diagnosis of VWD. IVD, thus, aids in gauging the severity of the disorder, thereby assisting in devising a further plan of treatment.
Thrombocytopenia:
Thrombocytopenia, marked by a diminished platelet count resulting in compromised blood clotting, can be inherited or acquired. Symptoms range from petechiae and easy bruising to severe bleeding. IVD assays, encompassing complete blood count (CBC) and platelet function tests prove instrumental in elucidating the root cause and evaluating the gravity of thrombocytopenia.
Treatment strategies for thrombocytopenia are multifaceted, contingent upon the cause and severity. Managing the underlying condition may suffice in certain instances, while other cases necessitate medications or, in severe circumstances, platelet transfusions.
The Pivotal Role of Coagulation Analyzers:
Coagulation analyzers aid in the timely detection of bleeding disorders by measuring clotting time, assessing platelet function, and evaluating levels of clotting factors. They play a crucial role in monitoring anticoagulant therapy effectiveness and identifying fibrinolysis abnormalities. The rapid and accurate results from these analyzers enable healthcare professionals to diagnose specific bleeding disorders, such as hemophilia, quickly. By detecting coagulation abnormalities early, coagulation analyzers facilitate prompt intervention and management, improving patient outcomes.
Our offerings at Transasia for early and accurate detection of Coagulation Disorders
Transasia Bio-Medicals Ltd.’s range of products for detecting coagulation disorders, including Erba D-dimer R and ECL range of fully and semi-automated coagulation analyzers, ECL 760, ECL 412, and ECL 105, offer early detection of clotting disorders. These analyzers are advanced systems, which redefine existing products in the marketplace. These systems have interactive displays, built-in printers, RFID, cuvette and reagent management systems, elaborate Quality Control software, and up to 6-point multi-standard curve features. These features allow the system to perform various coagulation tests on a semi-automated platform.
Fostering awareness about bleeding disorders and accentuating the role of IVD in their detection is imperative for ushering in early interventions and elevating patient outcomes. Regular screening, timely diagnosis, and personalized treatment paradigms form the cornerstone of effective management, ultimately enhancing the quality of life for individuals grappling with bleeding disorders.
References:
- Wendelboe AM, Raskob GE. Global Burden of Thrombosis: Epidemiologic Aspects. Circ Res. 2016;118(9):1340-1347
https://www.statista.com/statistics/373108/worldwide-people-with-blood-disorders/