Peng Cheng, Kou Qiuyue, Xia Qianqian, Cao Zhongfen, Liu Lili, Hou Xinlin, Tang Zezhong
Department of Neonatology, Peking University First Hospital, Beijing, China.
Department of Pediatrics, The Second Affiliated Hospital of Qiqihar Medical University, Qiqihar, China.
Front Pediatr. 2025 Jul 18;13:1649183. doi: 10.3389/fped.2025.1649183. eCollection 2025.
Hemophilia A is a rare X-linked recessive bleeding disorder characterized by coagulation factor VIII (FVIII) deficiency or dysfunction. While most cases present during early childhood with joint or soft tissue bleeding, neonatal-onset hemophilia A is uncommon and often difficult to diagnose owing to its nonspecific symptoms. Early recognition and a multidisciplinary management approach are critical for preventing life-threatening complications.
We report a case of a male neonate admitted on day 8 of life with progressive jaundice. Physical examination revealed a large cephalohematoma and multiple skin ecchymomas. Laboratory evaluation revealed anemia and a markedly prolonged activated partial thromboplastin time (APTT). APTT mixing studies indicated factor deficiency, and factor VIII activity was <1%, confirming severe hemophilia A. Genetic analysis identified an intron 22 inversion in the gene. Initial treatment included fresh frozen plasma, plasma-derived and recombinant factor VIII replacement, and phototherapy. After stabilization, the patient was transitioned to prophylactic emicizumab, which was well tolerated. At 6 weeks of age, the hematoma had nearly resolved with no further bleeding episodes observed.
Early-onset hemophilia A in neonates may present with subtle or atypical symptoms, requiring a high index of suspicion and comprehensive diagnostic evaluation. This case underscores the value of combining functional coagulation assays and molecular testing to confirm diagnosis. It also highlights the potential benefits of early initiation of non-factor prophylaxis. Collaborative cross-disciplinary care is essential to achieve optimal outcomes in neonatal patients with bleeding disorders.
甲型血友病是一种罕见的X连锁隐性出血性疾病，其特征为凝血因子VIII（FVIII）缺乏或功能障碍。虽然大多数病例在幼儿期出现关节或软组织出血，但新生儿期发病的甲型血友病并不常见，且由于其症状不具特异性，往往难以诊断。早期识别和多学科管理方法对于预防危及生命的并发症至关重要。
我们报告一例男性新生儿，出生第8天因进行性黄疸入院。体格检查发现巨大头颅血肿和多处皮肤瘀斑。实验室检查显示贫血以及活化部分凝血活酶时间（APTT）明显延长。APTT混合试验提示因子缺乏，FVIII活性<1%，确诊为重度甲型血友病。基因分析确定该基因存在内含子22倒位。初始治疗包括新鲜冰冻血浆、血浆源性和重组FVIII替代治疗以及光疗。病情稳定后，患者转为预防性使用emicizumab，耐受性良好。6周龄时，血肿几乎消退，未观察到进一步出血事件。
新生儿期发病的甲型血友病可能表现为细微或非典型症状，需要高度怀疑并进行全面的诊断评估。本病例强调了结合功能性凝血试验和分子检测以确诊的价值。它还突出了早期启动非因子预防性治疗的潜在益处。协作性跨学科护理对于出血性疾病新生儿患者取得最佳治疗效果至关重要。
