Akademik Veri Yönetim Sistemi
22nd International Hemophilia Congress of Türkiye, İstanbul, Türkiye, 6 - 08 Eylül 2025, ss.45-46, (Özet Bildiri)
Introduction and purpose: Bleeding symptoms in severe hemophilia A usually appear after six months of age, and delayed diagnosis is uncommon. Here, we present a case of a 10-year-old boy diagnosed with severe hemophilia A, and discuss the possible factors contributing to the diagnostic delay. Materials and Methods: A 10-year-old male patient under follow-up with a diagnosis of juvenile idiopathic arthritis (JIA) was referred to our clinic from the pediatric rheumatology outpatient department due to progressively increasing pain and limited range of motion in the left knee following trauma. The left knee joint appeared swollen and was painful on palpation and during joint movement. His medical history revealed that he had experienced significant bleeding following circumcision at 6 months of age and was referred to a tertiary center. At that center, a prolonged aPTT was detected, and pediatric hematology consultation was recommended. However, the family refused further evaluation and left the hospital, as documented in the patient’s records. At presentation, aPTT was 77.1 seconds, and a mixing study showed correction. Factor VIII levels were found to be below 0.3% in two separate laboratories. Following diagnosis, the patient was treated with extended half-life recombinant factor VIII for three weeks, resulting in near complete resolution of symptoms and restoration of mobility. He was then placed on a prophylactic regimen of extended half-life recombinant factor VIII at a dose of 40 IU/kg three times a week. Due to the family’s previously defensive attitude and anticipated better compliance, prophylaxis was switched to Emicizumab. At the time Emicizumab treatment was initiated, the patient's clinical findings had fully resolved.
Results and Conclusion: Despite the presence of bleeding symptoms and the physician’s suspicion of hemophilia, the family’s refusal of further evaluation led to a delayed diagnosis. Possible contributing factors include denial, minimization of symptoms, avoidance of medical intervention, or cultural and religious beliefs. Additionally, around 10–15% of severe hemophilia A cases may present with milder bleeding patterns, influenced by genetic mutations, coexisting prothrombotic conditions, or individual lifestyle and physical factors. Although rare, severe hemophilia A can be diagnosed beyond infancy and should be considered even in older children with suggestive clinical findings.
Keywords: Hemophilia A, delayed diagnosis, parental behavior