Introduction: Hemophilia is a hereditary congenital hemorrhagic diathesis caused by mutations in blood coagulation factor VIII (FVIII) or IX (FIX) genes, causing hemophilia A and B, respectively. Most cases are familial but a significant minority is sporadic.
Objectives: To examine the presenting symptoms of patients with hemophilia in Israel and identify causes for delay in diagnosis.
Methods: Retrospective analysis of data from medical files of newly diagnosed patients with hemophilia during the period from 1st January 2010 to 31s December 2017.
Results: During the study period 104 children had been diagnosed with hemophilia. Fifteen percent were diagnosed with hemophilia B and 85% with hemophilia A. In most familial cases the diagnosis was established by examination of aPTT and the level of the relevant clotting factor shortly after birth. Diagnosis of sporadic cases (40 cases) was performed due to suggestive clinical symptoms. Perinatal complications were observed in 6 newborns. The most common presenting symptom was disproportionate bleeding following circumcision. In 6/21 patients who experienced excessive bleeding following circumcision there was a delay in diagnosis. Severe bleeding requiring intensive care admission was observed in twelve neonates.
Discussion: Diagnosis of hemophilia in Israel is made at an earlier age than in Europe. This is probably due to the performance of ritual circumcision during the neonatal period. In recent years a reduction in familial cases of severe hemophilia has been noted due to genetic counseling of hemophilia carriers. In cases of excessive bleeding following circumcision aPTT and PT should be examined promptly.