THE SIGNIFICANCE AND DIAGNOSIS OF HEMOPHILIA
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Abstract
Hemophilia is a rare, inherited bleeding disorder characterized by the deficiency or absence of clotting factors VIII (Hemophilia A) or IX (Hemophilia B), leading to prolonged bleeding episodes. Affecting approximately 1 in 5,000 male births, hemophilia significantly impacts the quality of life and can result in life-threatening complications if not diagnosed and treated promptly. Early diagnosis is essential for effective management, preventing complications such as joint damage, intracranial hemorrhage, and chronic pain. Laboratory testing, including activated partial thromboplastin time (aPTT), factor assays, and genetic testing, plays a crucial role in accurate diagnosis. This paper explores the clinical importance of hemophilia, focusing on diagnostic strategies, challenges in early detection, and recent advancements in diagnostic technologies. Additionally, it evaluates literature on diagnostic accuracy and the global burden of hemophilia. The study emphasizes the need for early screening programs, especially in resource-limited settings where delayed diagnosis can have severe consequences. With modern molecular techniques and improved clinical guidelines, early and precise diagnosis of hemophilia is increasingly achievable. This article aims to provide a comprehensive understanding of hemophilia's diagnostic processes and underscore its clinical significance in reducing morbidity and improving patient outcomes.
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References
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