Women and girls with haemophilia: A retrospective cohort study in China

Abstract

Introduction Women and girls with haemophilia (WGH) may have spontaneous/traumatic bleeding similar to that in males with haemophilia, and in addition excessive bleeding during menstruation and delivery. Aim To characterize WGH in China and provide guidance for better management. Methods We retrospectively analysed the characteristics of WGH registered in the Haemophilia Treatment Center Collaborative Network of China (HTCCNC) Registry, including demographics, diagnosis and treatment, bleeding characteristics, obstetrical and gynaecological experiences, and surgical history. Results A total of 61 females had confirmed haemophilia. Diagnosis and treatment were typically delayed, longer in mild haemophilia than in severe and moderate. The most frequently reported bleeding manifestations were haemarthrosis in severe and moderate patients, and cutaneous bleeding in mild patients. Among 45 postmenarcheal WGH, 21 (46.7%) had history of heavy menstrual bleeding, but only three received treatments. Prenatal diagnosis and management of perinatal haemorrhage were inadequate. Of 34 deliveries in 30 women, nine deliveries were complicated by postpartum haemorrhage, and 22 offspring carried mutations causing haemophilia. Forty‐four surgical procedures were performed in 29 patients. Those procedures receiving preoperative coagulation factors coverage were significantly less likely to have excessive bleeding than those who did not (P = .003). Conclusion This is the first and largest study describing WGH in China. There are currently deficiencies in the identification, diagnosis, and management of these patients. Improving health insurance policies, establishing haemophilia centres, and multidisciplinary teams for bleeding and perinatal or perioperative management will help reduce morbidity and mortality.

The importance and evolution of bleeding disorder registries

“…Utilizing data collected by the national haemophilia registry system, we described the demographics, epidemiology, clinical profile and treatment of patients with haemophilia in China. [3][4][5][6][7][8][9] In 2007−2019, 17,779 patients with haemophilia A (HA) were uploaded to the national haemophilia registry system. For those patients with factor VIII level available (N = 13,116), 6,519 had severe HA (49.7%), 4,788 had moderate HA (36.5%), and 1,809 had mild HA (13.8%).…”

“…Utilizing data collected by the national haemophilia registry system, we described the demographics, epidemiology, clinical profile and treatment of patients with haemophilia in China 3–9 . In 2007−2019, 17,779 patients with haemophilia A (HA) were uploaded to the national haemophilia registry system.…”

“…Among 45 post‐menarcheal females, 21 (46.7%) had a history of heavy menstrual bleeding, but only three received treatments. Of 34 deliveries in 30 women, nine deliveries were complicated by postpartum haemorrhage 8 . The relatively small number of females entered in the registry likely represents lack of awareness about females with bleeding disorders and highlights the bias women and girls face in receiving care for bleeding disorders.…”

Exploring Female Relatives of Patients with Hemophilia’ Awareness, Attitudes, and Understanding Towards Genetic Testing

“…However, health issues of carriers are often only discovered later in life, such as during pregnancy, and they are often not aware of their reproductive risks and choices or their potential bleeding risks, and are often overlooked and underdiagnosed. [12][13][14] The earlier diagnosis of carriers may reduce the incidence rate of hemophilia, and help to decrease carriers' health issues and associated costs. 15,16 Genetic testing is the only way to confirm that a woman has hemophilia (or is a symptomatic or asymptomatic carrier), and can allow more accurate guidance on scientific pregnancy preparations and fertility assessments for hemophilia family members.…”