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All Journal Indonesian Journal of Cancer The Indonesian Biomedical Journal Sari Pediatri Paediatrica Indonesiana Majalah Kedokteran Nusantara The Journal Of Medical School Indonesian Journal of Clinical Pathology and Medical Laboratory (IJCPML) Cermin Dunia Kedokteran Indonesian Journal of Cancer Proceedings Book of International Conference and Exhibition on The Indonesian Medical Education and Research Institute
Bidasari Lubis
Department Of Child Health, Universitas Sumatera Utara Medical School, Medan, North Sumatra
Biochemistry, Genetics & Molecular Biology Health Professions Immunology & microbiology Medicine & Pharmacology Neuroscience Public Health

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Association between Musculoskeletal Status and Genetic Mutations in Patients with Hemophilia A Primacakti, Fitri; Wahidiyat, Pustika Amalia; Sjarif, Damayanti R.; Chozie, Novie Amelia; Candini, Naura Anindya; Prihartono, Joedo; Sukartini, Ninik; Ramadhani, Nadhifa Tazkia; Lubis, Bidasari
Proceedings Book of International Conference and Exhibition on The Indonesian Medical Education Research Institute Vol. 9 No. - (2025): Proceedings Book of International Conference and Exhibition on The Indonesian M
Publisher : Writing Center IMERI FMUI

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.69951/proceedingsbookoficeonimeri.v9i-.316

Abstract

Introduction: Hemophilia A is an inherited bleeding disorder caused by mutations in the factor VIII (FVIII) gene. These mutations result in either reduced FVIII synthesis (null variants) or loss of FVIII function (non-null variants). Null variants are typically associated with more severe FVIII deficiency and recurrent joint bleeding, which may adversely affect musculoskeletal health.  Objective: To evaluate the relationship between musculoskeletal status and genetic mutations in patients with hemophilia A. Methods: A cross-sectional study was conducted at the Faculty of Medicine Universitas Indonesia-Dr. Cipto Mangunkusumo Hospital from June 2024 to March 2025. Genetic analysis was performed at the Human Genetic Research Center using inverse-shifting PCR and Sanger sequencing. Mutations were classified as null variants (intron-22 inversion, intron-1 inversion, large deletion, and nonsense mutations) and non-null variants (missense and non-conserved splice mutation). Musculoskeletal status was assessed by the presence of target joints and the Hemophilia Joint Health Score (HJHS), which evaluates global gait and joint function of the elbows, knees, and ankles. Higher HJHS scores indicate worse joint health.  Results: Sixty patients were included in this study, of which 39 had severe, 15 had moderate, and the remaining 6 had mild hemophilia A. The median age was 9.5 years (range 2-18). Null variants were identified in 45/60 patients and non-null variants in 15/60 patients. The most common target joints were the knees in patients with null variants and the ankles in those with non-null variants. The median HJHS was 4 (Q1-Q3: 2-13.5) in the null variant group and 2 (Q1-Q3: 1-11) in the non-null variant group. No significant association was observed between the target joint and the HJHS and genetic mutations. Further subgroup analysis showed no difference in HJHS between mutation groups among patients receiving prophylaxis (p=0.366) or on-demand treatment (p=0.458). Conclusion: No association was found between genetic mutation type and musculoskeletal status in patients with Hemophilia A. HJHS did not differ between mutation groups regardless of treatment regimens.  
Clinical characteristics and genetic mutations in hemophilia A patients with inhibitors Primacakti, Fitri; Wahidiyat, Pustika Amalia; Sjarif, Damayanti Rusli; Chozie, Novie Amelia; Sukartini, Ninik; Prihartono, Joedo; Salsabila, Sheila Claudhea; Ramadhani, Nadhifa Tazkia; Lubis, Bidasari
Paediatrica Indonesiana Vol. 66 No. 1 (2026): January 2026
Publisher : Indonesian Pediatric Society

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Abstract

Background Antibodies to factor VIII, known as inhibitors, are a major problem in hemophilia A, especially in severe cases. Certain genetic mutations are associated with a higher risk of the formation of inhibitors. This study is the first in Indonesia to report on genetic mutations of hemophilia A patients with inhibitors. Objectives To detect genetic mutations, investigate potential risk factors, and evaluate inhibitor prevalence in pediatric hemophilia A patients. Methods An observational study was conducted at the Pediatric Hemophilia Treatment Center of Cipto Mangunkusumo Hospital, Jakarta. Inhibitors were measured using the Bethesda assay and classified as low- or high titer. Inverse shifting polymerase chain reaction (IS-PCR) was performed to detect inversion mutations. Negative results for inversion were followed by Sanger sequencing. Clinical data were obtained from medical records. Results Inhibitors were detected in 17 of 114 hemophilia A patients (14.9%), most of whom (88.2%) had severe disease and had fewer than 150 days of exposure to clotting factor concentrates (CFCs), classifying them as previously untreated patients (PUPs). The genetic mutations identified in inhibitor patients were intron 22 inversion (INV-22) mutations (41.2%), intron 1 inversion (INV-1) mutations (29.4%), nonsense mutations (17.6%), large deletions (5.9%), and missense mutations (5.9%). Family history of inhibitors, previous intensive treatment for major bleeding events or surgery, and type of concentrate were potential risk factors. Conclusion Intron 22 inversion mutations were the most common mutations associated with the presence of inhibitors in hemophilia A patients.
Co-Authors Ade Hariza Harahap Adi Koesoema Aman Adi Koesoema Aman Adi Sutjipto Adi Sutjipto Adi Sutjipto Adillida Adillida Ahmad Faisal Ani Ariani Arman J. O. Panjaitan Asrul Asrul Aznan Lelo Bebi Trianita Sari Bistok Saing Budi Andri Ferdian Bugis Lubis Bugis M Lubis Bugis Mardina Lubis Candini, Naura Anindya Chairuddin P. Lubis Charles Siregar Dachrul Aldy Damayanti R. Sjarif Damayanti Rusli Sjarif Danny Dasraf Dedi Gunadi Dedy Gunadi Dedy Gunadi Dina Lyfia Dini Lailani Eka D Edward Elvi Andriani Emil Azlin Emil Azlin Erlina Masniari Napitupulu Farhat Farhat Fathia Meirina, Fathia Fera Wahyuni Fitri Primacakti, Fitri Guslihan D Tjipta Guslihan D Tjipta Guslihan Dasa Tjipta Guslihan Dasa Tjipta Hakimi Hakimi Hakimi Hakimi Helena Siregar Herman Hariman Herman Hariman Hilda Hilda Ichwan HH Batubara Irwan Harpen Siahaan Iskandar Z. Lubis Joedo Prihartono Leon Agustian Leon Agustian, Leon Lily Emsyah Lily Rahmawati Lubis, Irania Thariaty Malayana R Nasution Masyitah Sri Wahyuni Melda Deliana Muara Lubis Muhammad Ali Muhammad Ali Muhammad Ali Munar Lubis Nancy Ervani Nelly Rosdiana Nelly Rosdiana Nelly Rosdiana Nelly Rosdiana Nelly Rosdiana Nelly Rosdiana Nelly Rosdiana Nelly Rosdiana Nelly Rosdiana Nelly Rosdiana Nelly Rosdiana Netty D. Lubuis Noersida Raid Nofareni Nofareni Novie Amelia Chozie Nurdiani Nurdiani Olga R. Siregar OLGA RASIYANTI SIREGAR, OLGA RASIYANTI Olga Siregar Paulina K. Bangun Perjuangan Dapot Hamonangan Simbolon Pertin Sianturi Pustika Amalia Wahidiyat, Pustika Amalia Putri Chadijah Tampubolon Ramadhani, Nadhifa Tazkia Reni Suryanty Ridwan M. Daulay Rina A C Saragih Rina A.C. Saragih Rina AC Saragih Rita Angraini Rita Carmelia Rita Carmelia Rosmayanti Syafriani Siregar Rusdi Andid Rusdidjas -, Rusdidjas Salsabila, Sheila Claudhea Saur L Margaretha Selvi Nafianti Selvi Nafianti, Selvi Sembiring, Krisnarta Sisca Silvana Sisca Silvana, Sisca Sri Sofyani Sri Sofyani Sukartini, Ninik Syafruddin Haris Syahril Pasaribu T. Mirda Zulaicha Tiangsa Sembiring Tiangsa Sembiring Tiangsa Sembiring, Tiangsa Tina Christina Tobing Trie Hariweni Trie Hariweni Vinisia Setiadji Wisman Dalimunte Y Dimyati Yoyoh Yusroh