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

Human ; Female ; Adolescent ; Hemophilia B ; X Chromosome Inactivation ; Uterine Hemorrhage

Thoracic endometriosis syndrome refers to the varying clinical and radiological manifestations associated with the growth of endometrial glands and stroma in the lungs or on the pleural surface. There are four clinical entities namely: catamenial pneumothorax, catamenial hemothorax, catamenial hemoptysis and lung nodules. Among the four catamenial pneumothorax is the most frequent presentation, accounting for approximately 80% cases. Catamenial pneumothorax is a recurrent pneumothorax occuring within 72 hours after the onset of menstruation but somewhat different time frames are possible. In this case report, a 41 year old nulligravid presented with recurrent difficulty of breathing, right sided chest pain and cough that coincided with her menstrual cycles. Chest x-ray and chest CT scan showed right pneumothorax. She underwent Video Assisted Thoracospic Surgery, talc and mechanical pleurodesis, chest tube thoracostomy, followed by continous combined oral contraceptive pills postoperatively. There was no recurrence of symptoms at 9 months follow-up.
Human ; Female ; Adult ; PNEUMOTHORAX ; CATAMENIAL PNEUMOTHORAX