PB1257 - Diagnostic Tool for Patients with Hemophilia: from Bedside to Comprehensive Investigation

Tuesday, June 27, 2023

18:30 – 19:30 ET

Room: Exhibition

Presenting Author(s)

Ampaiwan Chuansumrit

Professor
Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
Bangkok, Krung Thep, Thailand

Co-Author(s)

Rungrote Natesirinilkul, MD

Associate Professor
Department of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand
Chiang Mai, Chiang Mai, Thailand
Nongnuch Sirachainan, MD

Prof.
Faculty of Medicine Ramathibodi hospital, Mahidol University, Bangkok, Thailand
Bangkok, Krung Thep, Thailand
PS

Pacharapan Surapolchai

Physician
Department of Pediatrics, Faculty of Medicine, Thammasat University, Pathumthani, Thailand
Khlong Luang, Pathum Thani, Thailand
TR

Theera Ruchutrakool

Associate Professor
Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand
Bangkok, Krung Thep, Thailand
PK

Praguywan Kadegasem

Technician
Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
Bangkok, Krung Thep, Thailand
NT

Noppawan Tangbubpha

Technician
Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
Bangkok, Krung Thep, Thailand
TK

Tanyanee Khlangtan

Technician
Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
Bangkok, Krung Thep, Thailand

Background: The diagnosis of hemophilia is usually delayed in economically less-developed countries.

Aims: A diagnostic tool ranging from simple bedside test to comprehensive investigation, was reported.

Methods: Patients with known hemophilia and newly diagnosed hemophilia were included. Bleeding assessment was initially evaluated using the verified translated-Thai ISTH bleeding score. Then mixing venous clotting time (VCT) was performed at bedside followed by the assay of factor VIII/IX clotting activities at provincial and regional hospitals. The final DNA analysis was performed at the comprehensive hemophilia treatment center.

Results: Totally, 100 pediatric and adult patients with hemophilia (A77, B23) defined as severe (n=76), moderate (n=12) and mild (n=12) were enrolled in the study. The mean bleeding score of 70 patients < 12 years of age (12.3±5.4) did not differ from those of 30 patients ≥12 years of age (14.3±5.7) but postdental extraction bleeding was more frequently found among patients ≥12 years of age (20/30 vs. 30/70 p=0.022). Also, bleeding at the muscles and joints was significantly found among patients with severe and moderate degrees. A mixing VCT consisting of 3 tubes was performed at bedside. All patients had prolonged or slightly prolonged VCT in the first tube with whole blood alone. Patients with hemophilia A had a shortened VCT in the second tube containing factor VIII concentrate. Similarly, patients with hemophilia B had a shortened VCT in the third tube containing factor IX concentrate. The presumptive diagnosis of hemophilia A and B was confirmed by subsequent clotting factor assay. Finally, the EDTA blood was sent by mail without ice to the comprehensive center revealing mutations on the factor VIII and IX genes.

Conclusion(s): A diagnostic tool of bleeding assessment score, bedside mixing VCT, clotting factor assay and DNA analysis for patients with hemophilia has been established at different health care services.