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All Journal Medical Journal of Indonesia Indonesian Journal of Urology Indonesian Journal of Cancer Oto Rhino Laryngologica Indonesiana Journal of the Indonesian Medical Association : Majalah Kedokteran Indonesia Narra J Cermin Dunia Kedokteran Indonesian Journal of Cancer Makara Journal of Health Research IJRETINA - International Journal of Retina Neurona Proceedings Book of International Conference and Exhibition on The Indonesian Medical Education and Research Institute
Joedo Prihartono
Department of Community Medicine, Faculty of Medicine, Universitas Indonesia, Jakarta
Biochemistry, Genetics & Molecular Biology Education 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.  
Co-Authors -, Lisnawati Abidin Widjanarko Achmad Tjarta Adhi Teguh Perma Iskandar Afifi, Rahmi Alida Harahap Amalia, Ginva Amelia, Yustie Anak Agung Istri Sri Wiadnyani Andi A. Victor Andreas Christian Andrijono Ari Djatikusumo Arief, Wresty Ariyati, Ira Arman Muchtar Arman Mukhtar Asmarinah Averdi Roezin Aziza Icksan Bambang Supriyatno Bernie Endyarni Medise Bidasari Lubis Biddulth Sujana, Biddulth Billy, Christy Amanda Budi Iman Santoso Budi Wiweko Budianto Komari, Budianto Damayanti R. Sjarif Darmiati, Sawitri Deddy Hermawan, Deddy Diani Kartini Didid Tjindarbumi Djajadiman Gatot Drupadi Dillon Drupadi S. Dillon Dwikinta, Made Anindya Elfahmi, Khalida Ikhlasiya Tajdar Gefariena Elida Ilyas Elisna -, Elisna Endang Hardjolukito Endang S. Roostini Endang Windiastuti Ening Krisnuhono Erwinanto Esti Soetrisno Evert D.C. Poetiray Evert Poetiray EVLINA SUZANNA, EVLINA Fachri, Achmad Faisal - Fardizza, Fauziah Fatimah Eliana Fitri Primacakti, Fitri Fitriyadi Kusuma FLORENSA SIHALOHO, FLORENSA Gatot Purwoto Goi Sakamoto Gunawan Tjahjadi Hakim, Manfaluthy Harrina E. Rahardjo Hellyanti, Tantri Heri Wibowo Heriawaty Hidayat, Heriawaty Herman Cipto Hutabarat, Hernayati I Made Nasar Idral Darwis Idwal Darwis Iik Wilarso Ina S. Timan, Ina S. Indrati Suroyo Iris Rengganis Irwan Ramli Kardinah -, Kardinah Kautsar, Ahmad Kenji Wakai Kenzi Wakai Ketut Mulyadi Kusmarinah Bramono Lisnawati Lukman Edwar Lukman H. Makmun M. Kurniawan, M. Madjid, Amir Sjarifuddin Marcel Prasetyo Marwali, Muhammad Luky Satria Masamitsu Ichihashi Masato Ueda Mawardi, Prasetya Minarma Siagian Mochtar Hamzah Mpu Kanoko Muchlis Ramli Muhammad Ilyas Mulyadi M. Djer Muslim, Refni N. D. Yulisa Nafrialdi Nafrialdi Najib Advani Nakako Kubo Ninik Sukartini Nobuo Munakata Noorwati Sutandyo Novie Amelia Chozie Nurhadi Ibrahim Nurjati Chairani Siregar Nurul Akbar Olivia P. Perdana, Olivia P. Philip Waruna, Philip Ponco Birowo Pradana Soewondo Pradana Suwondo Pratamisiwi, Rindy Yunita Prawirodihardjo, Bonita Priya Darsini, Indira Priyono, Harim Pudjo Astowo, Pudjo Purwita Wijaya Laksmi Pustika Amalia Wahidiyat, Pustika Amalia R. R. Mangunkusumo Rahmad Mulyadi Rahmadhany, Anisa Ramadhani, Nadhifa Tazkia Risma Kerina Kaban, Risma Kerina Rumende, Cleopas M. Sadao Suzuki Salim Harris, Salim Sampurna, Kirana Samsuridjal Djauzi Santoso Cornain Santoso, Dewi Irawati Soeria Sekarutami, Sri Mutya Septelia I. Wanandi Setiawati Budiningsih Setyawati Budiningsih Setyo Handryastuti Sigit Pribadi Siti Setiati Sonar Panigoro Sri M.S. Utami Starry H Rampengan Suhendro Surahman Hakim Susilowati Herman Susumu Watanabe Sutjipto, Fiolita Indranita Suyatna, Fransiscus Dhyanagiri Suzanna Immanuel Syntia Nusanti Tabri, Nur A. Telly Kamelia Tetty Yuniati Tirza Z Tamin Tjokorda Gde Dalem Pemayun Trifonia Pingkan Virna D. Oktarina, Virna D. Wahyuni, Luh Kurnia Wasilah Rochmah Widjajalaksmi Kusumaningsih, Widjajalaksmi Wijaya, Ade Wilfried H. Sibuea Windy Keumala Budianti Wiwit Ade Fidiawati Wresti Indriatmi B. Makes Yoshiyuki Ohno Yoshiyuki Ohno Ohno Yudantha, Anggun Rama Zizlavsky, Semiramis