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Introduction: Haemophilia carriers (HCs) face a multitude of psychological challenges, mainly linked to the possibility of having an affected child. Important reproductive decisions such as opting for pre‐implantation genetic testing, or choosing prenatal diagnosis and then whether to continue or interrupt pregnancy in case of affected male fetus, have to be taken into consideration. Notwithstanding, the role of psychological characteristics on such decision‐making process needs further investigation. Aim: The aim of this study was to investigate whether HCs' beliefs and emotions about haemophilia and cognitive factors such as decision‐making style, risk perception, coping strategies in response to stress, and need for cognitive closure might modulate HCs' reproductive decisions. Methods: Participants were interviewed about their beliefs and emotions on haemophilia and filled an on‐line standardized questionnaire on cognitive variables. Sixty HCs participated in this study. Results: Results show that HCs with high distress for haemophilia given by negative childhood experiences for one or more family member illness and by high concern for their children's health, and with psychological traits characterized by logical (versus emotional) reasoning, active coping style and high need for certainty, tend to choose diagnostic prenatal tests over routine pregnancy analysis. Conclusion: This study highlighted the influence of negative early‐life experience with haemophilia and of several cognitive factors in HCs choice of prenatal test. [ABSTRACT FROM AUTHOR]

Introduction: Persons with haemophilia(PWH) have been shown to have low bone mineral density likely the result of prolonged immobility, recurrent hemarthrosis, decreased weight bearing, lower physical activity level and obesity. Bone health has been poorly characterized in haemophilia carriers (HC) and persons with von Willebrand disease (PWvWD). Aim: To estimate the prevalence of osteoporosis, osteoarthritis and bone fractures in HC and PWvWD and identify risk factors for poor bone health. Methods: This is a retrospective study using a population level, commercial database – Explorys (IBM Watson Health, Cleveland, USA). We compared prevalence rates of osteoporosis, osteoarthritis and fractures among cases (HC or PWvWD) and controls (general population without an underlying bleeding disorder) from 1999 to 2020. Prevalence of common risk factors for poor bone health were compared among cases and controls. Results: Among 72,917,850 active persons in the database, we identified 940 women with the diagnosis of HC and 19,580 PWvWD. Among HC and PWvWD, prevalence of osteoporosis, osteoarthritis and fractures were significantly higher in cases, when compared to controls. In HC, the prevalence of vitamin D deficiency, obesity, hypothyroidism, smoking, diabetes mellitus, hypocalcaemia, corticosteroid use, malignancy, renal failure and Nonsteroidal anti‐inflammatory drugs (NSAID) use were significantly higher among the cases. In PWvWD, the prevalence of risk factors was significantly higher in cases when compared to controls. Conclusion: The prevalence of osteoporosis, osteoarthritis and fractures is significantly higher among HC and PWvWD. This data highlights the importance of screening patients for risk factors for poor bone health and provide education to prevent these complications. [ABSTRACT FROM AUTHOR]

Background: Pregnancy, delivery and the postpartum period expose haemophilia carriers, as well as their potentially affected neonates to a high risk of haemorrhagic complications. Objectives: To describe bleeding complications in haemophilia carriers and their newborns throughout pregnancy and postpartum and to identify potential factors increasing the risk of bleeding in this population. Patients/Methods: The ECHANGE multicentre observational cohort study was conducted between January 2014 and February 2019 using the BERHLINGO database comprised of patients from seven French haemophilia centres. Results: During the 5 years study period, a total of 104 haemophilia carriers and 119 neonates were included, representing 124 pregnancies and 117 deliveries. Thirty‐five (30%) bleeding events were observed, most of them (83%) occurred during the postpartum period, and 37% were reported during the secondary postpartum. Neuraxial anaesthesia was not complicated by spinal haematoma. Three (2.5%) neonates experienced cerebral bleeding. Caesarean section was associated with an increased risk of maternal bleeding in primary and secondary postpartum periods. Basal factor level <0.4 IU/mL was also found to be associated with an increased risk of bleeding during secondary postpartum. Conclusion: In our cohort, bleeding events occurred in more than a third of haemophilia carriers mainly in the postpartum period, and a significant portion of this bleeding occurred during the secondary postpartum. Haemophilia carriers warrant specific attention during primary and secondary postpartum, in particular in case of caesarean section and low basal factor level. The ECHANGE study is registered at clinicaltrials.gov identifier: NCT03360149. [ABSTRACT FROM AUTHOR]

Introduction: An increased bleeding tendency has been shown in female haemophilia carriers compared to healthy females. Bleeding assessment tools (BATs) have mainly been performed in western cultures. It is unclear how they perform in populations with different healthcare, health/wellness concepts and awareness, as well as family planning practices. Aim: To (a) describe and compare the bleeding symptoms in carriers with healthy females, particularly for bleeding after surgical abortion and intrauterine device (IUD) placement which are performed frequently for family planning in China; (b) quantify scores of International Society on Thrombosis and Haemostasis Bleeding Assessment Tool (ISTH‐BAT) and Chinese‐BAT (C‐BAT) developed to include surgical abortion and IUD placement as separate categories in Chinese haemophilia carriers; (c) correlate bleeding scores (BS) with factor levels. Methods: We conducted a multicentre, cross‐sectional study on obligate haemophilia carriers and healthy controls using ISTH‐BAT and C‐BAT. Results: We enrolled 125 haemophilia carriers and 106 controls. Carriers, compared to controls, had significantly higher median BS (3 vs 1 by both ISTH‐BAT and C‐BAT) and lower factor level (63.5 vs 101.8 IU/dL). Bleeding after surgical abortion and IUD placement was significantly associated with carrier status. Bleeding scores from neither ISTH‐BAT nor C‐BAT showed significant correlation with factor levels. Conclusion: Haemophilia carriers in China experienced abnormal bleeding. Unique to the Chinese carriers is significant bleeding after surgical abortion (3rd highest incidence of bleeding symptom) and IUD placement (4th highest). However, both ISTH‐BAT and C‐BAT exhibited no correlation between BS and factor levels in this population and neither could identify carriers with low factor level (of <50 IU/dL). [ABSTRACT FROM AUTHOR]

Although hemophilia B affects 1 in 25,000 males there may be 3 female hemophilia B carriers per affected male. This clinical review highlights the unique challenges faced by hemophilia B carriers including the under‐recognition of bleeding symptoms associated with and without FIX deficiency, discrepancies in correlation between genotype and bleeding phenotype and therapeutic considerations utilizing clinical vignettes of common scenarios. [ABSTRACT FROM AUTHOR]

Introduction There has been increasing recognition in recent years that female carriers of haemophilia manifest abnormal bleeding; however, data on the use of bleeding assessment tools in this population are lacking. Aim Our objective was to validate the ISTH- BAT in haemophilia carriers to describe bleeding symptoms and allow for comparisons with factor levels and other patient groups. Methods This was a prospective, observational, cross-sectional study performed by members of Global Emerging HEmostasis Panel ( GEHEP). Unselected consecutive haemophilia carriers were recruited and a CRF and the ISTH- BAT were completed by study personnel. Results A total of 168 haemophilia carriers were enrolled: 155 haemophilia A and 13 haemophilia B. The mean age was 40 years (range: 20-82). Carriers had higher mean bleeding scores ( BS) compared with age-matched controls ( n = 46; 5.7 vs. 1.43; P < 0.0001) and Type 3 VWD OC ( n = 32; 3.0; P = 0.009), but lower BS compared with women with Type 1 VWD ( n = 83; 8.7; P < 0.0001). Fifteen carriers reported haemarthrosis, and of those six had normal FVIII/ FIX levels. There was a significant but weak negative correlation between BS and factor level (Spearman's r2 = −0.36, P < 0.001). Conclusion Our results show that haemophilia carriers experience abnormal bleeding, including haemarthrosis. Overall, BS in women with Type 1 VWD > haemophilia carriers > Type 3 VWD OC > controls. Understanding the performance of the ISTH- BAT in this population is a critical step in future research aimed at investigating the underlying pathophysiology of abnormal bleeding, with the ultimate goal of optimizing treatment. [ABSTRACT FROM AUTHOR]

To assess women’s experiences in pregnancy and attitudes towards their reproductive choices, a structured questionnaire was sent to all obligate and potential carriers of haemophilia (A and B), aged 14–60 years, registered with our haemophilia centre. One hundred and ninety-seven of 545 (36%) returned completed questionnaires. Clinical details, including type and severity of the disease in the family and results of DNA analysis for carrier detection, were obtained from patient notes. One hundred and sixty women had been pregnant at least once, of whom 36 (23%) had received a prenatal diagnostic test. Of the 41 women who had pregnancy terminations, haemophilia was the main reason in only 11 (27%) women. This decision was affected by the woman’s religion and results of DNA studies. Living close to a haemophilia centre, proper counselling at the centre and awareness of the availability of prenatal diagnostic tests influenced the women’s decision to become pregnant in 14% and 10% of first and subsequent pregnancies, respectively. These factors were considered more frequently in women with severe haemophilia in the family (P = 0.002) and in confirmed carriers of haemophilia (P = 0.04). When women made a conscious decision not to have children, the reasons were fear of passing haemophilia onto their child (44%), previous experience with haemophilia (6%) and the stress of going through prenatal tests (7%). Severity of the disease in the family, haemophilia diagnosis, results of DNA studies, religion and year of birth had no effect on this decision. Our data indicate that haemophilia and related factors in the family have an influence on women’s reproductive choices. [ABSTRACT FROM AUTHOR]