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Journals / Çocuk Dergisi / 2026 / Cilt: 23 Sayı: 4

Rare Coagulation Factor Deficiencies: Multicenter Experience With 188 Cases

Veysel Gök(Erciyes University Faculty of Medicine, Division of Pediatric Hematology and Oncology, Department of Pediatrics)0000-0002-7195-2688
Esra Pekpak Şahinoğlu(Gaziantep University Faculty of Medicine, Division of Pediatric Hematology and Oncology, Department of Pediatrics)0000-0003-2143-1435
Hüseyin Tokgöz(Necmettin Erbakan University Meram Faculty of Medicine, Division of Pediatric Hematology and Oncology, Department of Pediatrics)0000-0002-3064-4646
Fatma Türkan Mutlu(Health Sciences University, Kayseri City Hospital, Department of Pediatric Hematology and Oncology)0000-0003-4593-8679
Can Acıpayam(Sütçü İmam University Faculty of Medicine, Division of Pediatric Hematology and Oncology, Department of Pediatrics)0000-0002-6379-224X
Kamuran Karaman(Van Yüzüncü Yıl University Faculty of Medicine, Division of Pediatric Hematology and Oncology, Department of Pediatrics)0000-0003-2991-3551
Defne Ay Tuncel(Health Sciences University, Adana City Hospital, Department of Pediatric Hematology and Oncology)0000-0002-1262-8271
Ayşe Ceyda Ören(Gaziantep University Faculty of Medicine, Division of Pediatric Hematology and Oncology, Department of Pediatrics)0000-0002-7676-0095
Ayşe Şimşek(Necmettin Erbakan University Meram Faculty of Medicine, Division of Pediatric Hematology and Oncology, Department of Pediatrics)0000-0001-9250-078X
Bilal Arslan(Van Yüzüncü Yıl University Faculty of Medicine, Division of Pediatric Hematology and Oncology, Department of Pediatrics)0009-0001-3907-0888
Hatice Beyza Ünal(Erciyes University Faculty of Medicine, Division of Pediatric Hematology and Oncology, Department of Pediatrics)0000-0002-5684-5657
Alper Özcan(Erciyes University Faculty of Medicine, Division of Pediatric Hematology and Oncology, Department of Pediatrics)0000-0002-6100-1205
Ebru Yılmaz(Erciyes University Faculty of Medicine, Division of Pediatric Hematology and Oncology, Department of Pediatrics)0000-0003-4802-0986
Sinan Akbayram(Gaziantep University Faculty of Medicine, Division of Pediatric Hematology and Oncology, Department of Pediatrics)0000-0001-7410-4310
Musa Karakükçü(Erciyes University Faculty of Medicine, Division of Pediatric Hematology and Oncology, Department of Pediatrics)0000-0003-2015-3541
Ahmet Fayik Öner(Van Yüzüncü Yıl University Faculty of Medicine, Division of Pediatric Hematology and Oncology, Department of Pediatrics)0000-0003-3858-8105
Ümran Çalışkan(Necmettin Erbakan University Meram Faculty of Medicine, Division of Pediatric Hematology and Oncology, Department of Pediatrics)0000-0003-4695-7046
Türkan Patıroğlu(Erciyes University Faculty of Medicine, Division of Pediatric Hematology and Oncology, Department of Pediatrics)0000-0003-2471-764X
Ekrem Ünal(Erciyes University Faculty of Medicine, Division of Pediatric Hematology and Oncology, Department of Pediatrics)0000-0002-2691-4826
Pages
349–355
Publication Date
2024-02-20
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Conclusion: As bleeding disorders are somehow a rare group of disorder, early diagnosis and treatment are critical to reduce the high morbidity and mortality.

📌 3 Key Takeaways

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Objective & Hypothesis:Objective: Rare factor deficiencies are a group of autosomal recessive bleeding disorders (with the exception of dysfibrinogenemia), which are characterized by the deficiency or dysfunction of one or more coagulation factors (F)I, FII, FV, FV+FVIII, FVII, FX, FXI, FXII, and FXIII.
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Key Findings & Data:Materials and Methods: 188 patients with a rare factor deficiency from seven distinct pediatric hematology centers in Turkey were obtained for the study.
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Conclusion & Impact:Conclusion: As bleeding disorders are somehow a rare group of disorder, early diagnosis and treatment are critical to reduce the high morbidity and mortality.
🔬Design:Araştırma Makalesi
📍Scope:Comprehensive Sample
⚙️Variables:Bleeding · Deficiency · Factor

Abstract

Objective: Rare factor deficiencies are a group of autosomal recessive bleeding disorders (with the exception of dysfibrinogenemia), which are characterized by the deficiency or dysfunction of one or more coagulation factors (F)I, FII, FV, FV+FVIII, FVII, FX, FXI, FXII, and FXIII. Materials and Methods: 188 patients with a rare factor deficiency from seven distinct pediatric hematology centers in Turkey were obtained for the study. Results: 60 (31.9%) patients had a family history of bleeding. Consanguinity was detected in 85 patients (45.2%). 128 patients (68.1%) were symptomatic; the most common bleeding symptom was epistaxis (34.6%) and followed by the bleeding of skin (19.1%), oral cavity (16.1%), soft tissue (8%), central nervous system (CNS) (6.2%), uterine (4.9%), joint (3.7%), gastrointestinal system (GIS) (3.7%), and urinary system (US) (3.7%). The first bleeding sites consist of nose (39%), CNS (10.9%), oral cavity (10.9%), skin (10.9%), umbilical cord (10.2%), GIS (5.5%), US (5.5%), heel (4.7%), and musculoskeletal system (2.3%). CNS hemorrhage was the most common in fibrinogen (n:4), FVII (n:6), and FX (n:2) deficiency, umbilical cord bleeding was the most common in fibrinogen (n:3) and FXIII (n:7) deficiency, heel bleeding was frequently seen in fibrinogen (n:6) deficiency. The life-threatening bleedings were CNS (n:27, 77.1%), GIS (n:7, 20%), and iliopsoas (n:1, 2.9%), respectively. The reasons leading to the diagnosis were bleeding (57.4%), preoperative screening (15.4%), incidental (15.4%), family history (6.4%), and postoperative bleeding (5.3%). 2/5 FXII deficiency patients had mild bleeding symptoms. Conclusion: As bleeding disorders are somehow a rare group of disorder, early diagnosis and treatment are critical to reduce the high morbidity and mortality.

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Cite This Article

Gök, V., Şahinoğlu, E. P., Tokgöz, H., Mutlu, F. T., Acıpayam, C., Karaman, K., Tuncel, D. A., Ören, A. C., Şimşek, A., Arslan, B., Ünal, H. B., Özcan, A., Yılmaz, E., Akbayram, S., Karakükçü, M., Öner, A. F., Çalışkan, Ü., Patıroğlu, T., Ünal, E. (2024). Rare Coagulation Factor Deficiencies: Multicenter Experience With 188 Cases. Çocuk Dergisi, Cilt: 23 Sayı: 4, 349–355. https://doi.org/10.26650/jchild.2023.1308877

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