Literature Review: Comparing Traditional and New Ways to Diagnose Hemophilia in Indonesia
Keywords:
Bethesda Assay, Clot Waveform Analysis, Genetic Analysis, HemophiliaAbstract
Hemophilia is a congenital bleeding disorder that necessitates laboratory diagnosis for treatment and monitoring of the treatment process due to a deficiency of factor VIII or IX. This study is a literature review comparing conventional and modern diagnostic methods for hemophilia in Indonesia. The research method used data from 2020-2025, identified through PubMed, Sciencedirect, and Google Scholar, focusing on hemophilia patients assessed with Activated Partial Thromboplastin Time (aPTT), factor VIII activity test, Bethesda test, Clot Waveform Analysis (CWA), and genetic analysis. The results show that conventional methods such as the aPTT test and factor VIII, can be used for initial screening and disease classification, while the Bethesda test is considered effective for detecting inhibitors with highcost coverage and laboratory standards. Modern diagnostic techniques provide diagnostic advantages, such as the ability to differentiate mild, moderate, and severe hemophilia at a lower cost than chromogenic factor VIII testing. This is achieved by utilizing optical aPTT data to evaluate coagulation dynamics in real time and demonstrate a correlation with factor VIII activity. Genetic analysis using PCR, Sanger sequencing, and Next Generation Sequencing (NGS) can be techniques for identifying F8/F9 gene mutations but require supporting costs. Combining conventional and modern approaches is recommended to improve diagnostic accuracy and therapeutic effectiveness, and is expected to reduce the incidence of disease and mortality in individuals with hemophilia.
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