Multicenter Study of Diagnostic Tool for Patients with Hemophilia: From Bedside to Comprehensive Investigations
2
Issued Date
2023-01-01
Resource Type
eISSN
1178704X
Scopus ID
2-s2.0-85178965999
Journal Title
Application of Clinical Genetics
Volume
16
Start Page
215
End Page
223
Rights Holder(s)
SCOPUS
Bibliographic Citation
Application of Clinical Genetics Vol.16 (2023) , 215-223
Suggested Citation
Chuansumrit A., Natesirinilkul R., Sirachainan N., Kadegasem P., Surapolchai P., Tangbubpha N., Kempka K., Khlangtan T. Multicenter Study of Diagnostic Tool for Patients with Hemophilia: From Bedside to Comprehensive Investigations. Application of Clinical Genetics Vol.16 (2023) , 215-223. 223. doi:10.2147/TACG.S434470 Retrieved from: https://repository.li.mahidol.ac.th/handle/123456789/91447
Title
Multicenter Study of Diagnostic Tool for Patients with Hemophilia: From Bedside to Comprehensive Investigations
Other Contributor(s)
Abstract
Background: Hemophilia cannot be diagnosed in most laboratories of economically less-developed countries leading to high mortality and morbidity rates. Aim: A diagnostic tool was established ranging from bleeding assessment and a simple bedside test of mixing venous clotting time (VCT) to comprehensive DNA analysis for patients with hemophilia. Methods: Patients with known (n=80) and suspected hemophilia (n=14) were included. Their bleeding symptoms were initially evaluated using verified translated-Thai ISTH bleeding assessment tool. Then, blood samples were drawn using a two-syringe technique, 2 mL each was placed in three tubes, for the mixing VCT and citrate blood was kept for coagulogram and coagulation factor assay. Finally, DNA analysis was determined. Results: A total of 94 patients with hemophilia (A68, B26) defined as severe (A 57, B 17), moderate (A 7, B 5), and mild degrees (A 4, B 4) with the mean (SD) age of 14.0 (11.7) years and 24 normal controls aged 25.5 (4.5), were enrolled in the study. The mean (SD) bleeding score of patients with hemophilia was 13.5 (5.5), which did not significantly differ between patients with hemophilia A and B. The mixing venous clotting time offered the presumptive diagnosis of hemophilia A and B, which were subsequently confirmed by the prolonged APTT, low FVIII:C and FIX:C and mutations on the factor VIII and IX genes. Conclusion: A diagnostic tool for bleeding assessment, mixing venous clotting time, coagulogram, coagulation factor assay, and DNA analysis for patients with hemophilia has been established in the existing health-care system.