HAEMOPHILIA - Purwanto, Diana S (Jurnal Biomedik : JBM, 2012)
Abstrak: Hemofilia adalah kelainan perdarahan kongenital yang disebabkan oleh kekurangan faktor VIII (faktor antihemofilik) yang terkait dengan Hemofilia A, atau faktor IX (faktor Christmas) yang terkait dengan Hemofilia B. Kedua hemophilia diturunkan secara X-linked resesif, dan umumnya ditemukan pada laki-laki. Kami melaporkan kasus seorang anak berusia 4 tahun dengan riwayat memar, pendarahan berlebihan, disertai pembengkakan sendi yang nyeri dan hematoma otot, yang dicurigai mengidap hemofilia. Serial tes koagulasi dilakukan dengan hasil: jumlah trombosit, waktu perdarahan, prothrombin time (PT), thrombin clotting time (TCT), dan fibrinogen normal, sedangkan activated partial thromboplastin time (APTT) memanjang. Mixing studies dikoreksi ketika plasma normal dan adsorbed plasma ditambahkan ke plasma pasien, yang menunjukkan defisiensi faktor VIII merupakan penyebab hemofilia ini. Aktivitas faktor VIII 8% menegaskan suatu hemofilia A derajat ringan. Kata kunci: hemofilia, PT, APTT, mixing studies, faktor VIII. Abstract: Haemophilia is a congenital bleeding disorder caused by a deficiency of factor VIII (antihaemophilic factor), which is related to haemophilia A, or factor IX (Christmast factor), associated with haemophilia B. Both X-linked are recessive, and males are affected mostly. In this case, a four year old boy, who had a history of excessive bruising and bleeding, also suffered from painful swelling of joints and muscle hematoma. He was diagnosed of suspected haemophilia. A serial test of coagulation studies was performed. The results of platelet count, skin bleeding time, prothrombin time, thrombin clotting time, and fibrinogen were normal; whereas, the activated partial thromboplastin time was prolonged. The mixing studies were corrected when normal plasma and adsorbed plasma were added to the patient plasma, suggesting that the factor VIII deficiency was the cause of this haemophilia. The factor VIII activity was 8% which confirmed the evidence of mild haemophilia A. Keywords: haemophilia, PT, APTT, mixing studies, factor VIII.