症例
女性血友病Aの1例
1980 年 21 巻 12 号 p. 1931-1937
詳細
1980 年 21 巻 12 号 p. 1931-1937
5-year-old-girl with recurrent subcutaneous bleedlings and epistaxis was admitted to Shizuoka Children's hospital for further investigation. She had a history of abnormal post-traumatic bleeding of the tongue at the age of 3 years. Hemostatic screening tests on admission revealed prolonged A-PTT and abnormal TEG patterns. She had low level of VIII: C (7.6%∼16%) but normal level of VIII R: AG (115%) and VIII R: WF (94%) Platelet count, bleeding time, PT, fibrinogen, Platelet retention, ristocetin induced platelet aggregation and factor VIII-crossed immunoelectrophoresis showed normal values. No factor VIII inhibitor was demonstrated. Her Karyotype revealed 46 chromosomes with two X chromosomes. Mother showed no abnormal hemostatic figures, but father was bleeder, althrough he was not precisely tested. From these findings, she was diagnosed to be a female hemophilia A of heterozygous type.
