Hemophilia A and C in a female: The first case report in literature.
Autor: | Alkarrash MS; Faculty of Medicine, University of Aleppo, Aleppo, Syria., Badawi R; Faculty of Medicine, University of Aleppo, Aleppo, Syria., Sallah H; Faculty of Medicine, University of Aleppo, Aleppo, Syria., Shashaa MN; Faculty of Medicine, University of Aleppo, Aleppo, Syria., Argilo J; Faculty of Medicine, University of Aleppo, Aleppo, Syria., Alkhoury R; Hematology Department, Ibn Rushd Hospital, Aleppo, Syria. |
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Jazyk: | angličtina |
Zdroj: | Annals of medicine and surgery (2012) [Ann Med Surg (Lond)] 2021 Jul 15; Vol. 68, pp. 102561. Date of Electronic Publication: 2021 Jul 15 (Print Publication: 2021). |
DOI: | 10.1016/j.amsu.2021.102561 |
Abstrakt: | Introduction: One of the relatively rare hemostatic disorders is coagulation factors' deficiency, where a single factor or multiple factors can be deficient. All hereditary coagulation factors' deficiencies are autosomal recessive, so they can manifest in both genders, but Hemophilia A and B are X-linked disorders. Therefore, females can rarely be affected. This paper reports the first case of simultaneous coagulation factors' deficiencies of FVIII and FXI in a female. Case Presentation: A 17-year-old female came to the office due to prolonged epistaxis, with a history of severe menstrual bleeding and frequent episodes of epistaxis. In her familial history, a brother complained of epistaxis episodes. Bleeding time and prothrombin time were normal but activated partial thromboplastin time was increased. Von Willebrand disease was excluded, and she was diagnosed with hemophilia A and C. Discussion: Females can be affected with X-linked disorders such as hemophilia A and B in some rare cases: a carrier mother and affected father, skewed X chromosome inactivation, Turner syndrome, inhibiting antibodies (acquired hemophilia), or a sporadic mutation on the most activated X chromosome. On the other hand, Hemophilia C is an autosomal recessive disease. Treatment of such cases is a challenge, and the recombinant coagulation factors are the treat-of-choice. Conclusion: Although Von Willebrand disease is the most common hereditary bleeding disorder in females, other rare diseases could be suspected such as Hemophilia. X-linked Hemophilia should be kept in mind as a differential diagnosis in any female patient suffering from hemorrhage. Competing Interests: The authors declare that they have no competing interests. (© 2021 The Author(s).) |
Databáze: | MEDLINE |
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