关键词: 婴儿, 新生儿, 血友病, 因子Ⅷ

Abstract: Objective To discuss the clinical features,diagnosis, treatment and prognosis of hemophilia A in neonates.Methods The clinical records of 11 neonates with hemophilia A who were referred to Children's Hospital of Fudan University from February 2016 to June 2019 were reviewed retrospectively.Results All 11 cases of neonatal hemophilia A were males, and only 3 cases had hemophilia family history. There was no bleeding in 2 cases, only skin ecchymosis in 2 cases, and bleeding in other 7 cases. The bleeding sites included subdural, intracranial, subcutaneous areas and digestive tracts. All patients had prolonged activated partial thromboplastin time(APTT) and deficiency of factor Ⅷ,including 9 intermediate cases, 1 severe case and 1 mild case. FⅧ gene mutation was confirmed in 5 cases, including deletion in 2 cases and point mutation in 3 cases. After diagnosis, they were treated with factor Ⅷ infusion. Up to June 2019, 1 case has lost follow-up; 4 cases have had no bleeding; only 1 case has had spontaneous hemorrhage of ankle joint, and the remaining cases have showed skin bruise/subcutaneous hematoma after trauma.Conclusion For multiple abnormal of coagulation function especially APTT prolonged three times in neonatal period, with or without hemophilia, the possibility of hemophilia should be considered. It is supposed to complete the determination of coagulation factor activity level and gene detection should be completed as soon as possible to make a definite diagnosis, and early diagnosis and prophylactic infusion of coagulation factors can improve the prognosis.

Key words: Infant, Newborn, Hemophilia, Factor Ⅷ