A severe form of hemophilia a associated with left knee hemarthrosis in a child

Abstract

Introduction: Hemophilia A, also called factor VIII (FVIII) deficiency is a genetic disorder caused by missing or defective factor VIII, a clotting protein. The gene for hemophilia is carried on the X chromosome. Although about 1/3 of haemophilia A cases are caused by a spontaneous mutation, a change in a gene. The severity of haemophilia A is linked with the level of FVIII in the blood - Severe: FVIII levels less than 1%; Moderate: FVIII levels of 1-5%; Mild: FVIII levels of 6-30%. Objective: To present the case of a child suffering from a severe form of hemophilia A having the levels of FVIII less than 0,6% to which Associates multiple hematomas, knee hemarthrosis and subclavian giant bruise.Results: There is a marked improvement in the current hemodynamic status as a comparisonwith that of his first hospitalization under the replacement therapy with FVII. The bruisings and hematomas had retired. Conclusions: If a child especially if is a male has hemarthrosis in the large joints, had to be considered the possibility of having a coagulopathy even if he has no positive family history of any kind of coagulopathy. Hemophilia A has an outburst evolution, their frequency is related to the concentration of the Factor VIII which is why the patient will require chronic replacement therapy with the avoidance of exercises and traumas. Under the correct treatment, in terms of continuous prophylactic substitutions, life expectancy and quality of life was greatly improved, the risk of death caused by cerebral hemorrhage, internal bleeding or hemorrhagic shock had reduced to below 3 % of all the patients.