PDF(Pubmed)
Abstract：
Hemophilia is a rare bleeding disorder caused by a genetic defect on chromosome X. It is inherited as an X-linked trait, and hence, it is more frequently diagnosed in males, whereas women have been traditionally considered only as carriers of the disease. However, the role of women in families of patients with hemophilia is pivotal. As mothers, sisters, daughters, and female partners of patients with hemophilia, they play a central role in the management of the patient, considering healthcare, social, and familial aspects, but they might be affected by the disease as well, particularly in regions where consanguinity is frequent. This paper aims to explore the involvement of women in hemophilia, including their carrier status, bleeding symptoms, treatment challenges, and psychosocial impact not only related to male patients, but also as patients affected with hemophilia themselves. We advocate health equity, equal access to healthcare for men and women with hemophilia and dedicated resources to improve the unique needs of the women dealing with hemophilia, ultimately leading to improved care and quality of life.
摘要：
血友病是由X染色体上的遗传缺陷引起的一种罕见的出血性疾病。因此，它更常见于男性，而女性传统上只被认为是这种疾病的携带者。然而,女性在血友病患者家庭中的作用至关重要。作为母亲,姐妹们,女儿们,血友病患者的女性伴侣，它们在病人的管理中起着核心作用，考虑到医疗保健，社会,和家庭方面，但他们也可能受到疾病的影响，特别是在血缘频繁的地区。本文旨在探讨女性血友病的发病情况,包括他们的承运人身份，出血症状,治疗挑战,社会心理影响不仅与男性患者有关，而且患者本身也受到血友病的影响。我们提倡健康公平，为血友病男女提供平等的医疗保健，并提供专门的资源来改善处理血友病的妇女的独特需求，最终改善护理和生活质量。
