The Application of Clinical Genetics (Dec 2023)

Multicenter Study of Diagnostic Tool for Patients with Hemophilia: From Bedside to Comprehensive Investigations

  • Chuansumrit A,
  • Natesirinilkul R,
  • Sirachainan N,
  • Kadegasem P,
  • Surapolchai P,
  • Tangbubpha N,
  • Kempka K,
  • Khlangtan T

Journal volume & issue
Vol. Volume 16
pp. 215 – 223

Abstract

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Ampaiwan Chuansumrit,1 Rungrote Natesirinilkul,2 Nongnuch Sirachainan,1 Praguywan Kadegasem,1 Pacharapan Surapolchai,3 Noppawan Tangbubpha,1 Ketsuda Kempka,1 Tanyanee Khlangtan1 1Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand; 2Department of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand; 3Department of Pediatrics, Faculty of Medicine, Thammasat University, Pathum Thani, ThailandCorrespondence: Ampaiwan Chuansumrit, Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, 270 Rama VI Road, Rachathewi District, Bangkok, 10400, Thailand, Tel +66 2 2011749, Fax +66 2 2011748, Email [email protected]: 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.Keywords: diagnostic tool, hemophilia A & B, bleeding score, mixing VCT, F8 & F9 gene mutation

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