“Hemofilia tipo A”

Abstract

Hemophilia is a devastating disease of genetic origin, recessive and linked to the X chromosome, which contains the genes that code for the hemostatic factors VIII and IX. Some specific mutations of these genes cause the appearance of hemophilia A or B. Hemophilia type A is caused by the reduction in the amount or activity of coagulation factor VIII, a failure at this point of the cascade of coagulation. The result is poor fibrin formation, which causes the coagulation to be much longer and the coagulum more unstable. Approximately 1 in every 5000 males is affected. The severity of the clinic correlates with factor levels. The following clinical case analysis is a 4-year-old male patient with a personal pathological head trauma of mild cranial encephalic trauma at 2 years and a personal surgical history of wound cauterization at the level of the lip when he was 2 years 6 months, that presents approximately 3 days of gingivorrhagia evolution after molar extraction, also refers to asthenia, anorexia, marked weakness and generalized pallor, to the physical examination he was: pale skin, at the level of the gingiva, there is an injury in the process of healing, no stigmas or active bleeding on admission, auscultation presents: tachycardia, rhythm regular, normofoneticos heart sounds, ausculta murmur at the level of holosistolico tricuspid focus, has hemoglobin 5.9 g/dl, hematocrit 20.1 %. He´s admitted to the pediatric hospitalization service of Hopital IESS Ambato where complementary tests are performed showing altered values of part time of thromboplastin what leads to perform other complementary tests to arrive the diagnosis of hemophilia type A