Dear Colleague,

I saw today in consultation the young Artem VADNAIS, 4 years old, accompanied by his parents for the results.

History of the illness:
I had met Artem two weeks ago, brought by his mother on the advice of the pediatrician. After doing somersaults down the stairs, the little boy presented numerous bruises on the lower limbs and hemarthrosis in the left elbow. Since childhood, Artem's parents report spontaneous bruising on the limbs and petechiae. Artem's mother also reports frequent gingival bleeding during tooth brushing. The ISTH-BAT bleeding score was greater than 3. In light of this clinical picture, we prescribed a hemostasis assessment including: Platelets, PT, aPTT, fibrinogen, factor VIII, factor IX, and vWF.

The hemostasis assessment is found to be disturbed. We observe an isolated prolongation of aPTT and a normal prothrombin level. The platelet count was normal at 352 G/L. We find an isolated deficiency of factor VIII (F VIII 3%), a normal factor IX at 85%, a normal vWF, and an absence of anti-FVIII antibodies.

Artem is therefore diagnosed with moderate hemophilia A. I explain to the parents the type and severity of their child's disease. The possible bleeding manifestations (epistaxis, bruising, hemarthroses), their implications in daily life, and the potential long-term complications. During the consultation, we discussed the types of treatments as well as their modalities. We addressed the precautions and contraindications to avoid exacerbating bleeding risks (contraindication of NSAIDs, aspirin, etc.). We collected Artem's blood today to establish the genetic diagnosis. We created a family tree to identify carrier females in the family, and Artem's mother will be seen in a genetic counseling consultation to determine her status. The documents (hemophilia card, emergency care card, hemophilia follow-up booklet) have been given to the parents.

I will see the family again in consultation with the results of the genetic tests.
I remain at your disposal and that of the family for any further questions.
Fraternally.