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Hemophilia B in a Female Adolescent: A Case Report

Joanna Francesca C. Nayal, MD; Ma. Susan C. Balete, MD, FPOGS, FPSUOG, FPSSTD
Department of Obstetrics and Gynecology, Our Lady of Lourdes Hospital

Hemophilia is a relatively rare bleeding disorder. It is an X-linked hereditary bleeding disorder caused by a deficient or defective coagulation factor VIII (Hemophilia A) or factor IX (Hemophilia B). Hemophilia A is more common than Hemophilia B. The X-linked inheritance pattern results in men expressing the disease and women typically being carriers. Under rare circumstances a woman can also show a bleeding phenotype.
A 13 year-old female presented with profuse vaginal bleeding. She had history of several hospital admissions because of bleeding manifestations like hematuria and epistaxis. Based on the pedigree analysis and results of factor IX assay tests she was diagnosed to have Hemophilia B of moderate severity. She was given hormonal and non-hormonal treatments as well as blood transfusions which stop the bleeding and corrected the anemia. A multidisciplinary approach of management involving the gynecologist, hematologist
and a geneticist will be beneficial to the patient. The inheritance, clinical manifestations, diagnosis and treatment of Hemophilia B in a female adolescent are discussed.