Screening of haemophilia carriers in moderate and severe haemophilia A and B: Prevalence and determinants

Bernard, Wivine; Lambert, Catherine; Henrard, Séverine; Hermans, Cédric

doi:10.1111/hae.13468

Cited by 7 publications

(10 citation statements)

References 7 publications

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“…Besides haemophilia, all families with inherited BDs should be offered easy HTC access. Every patient contact provides an opportunity to identify affected family members (PoC 2), and provide access to haemostatic testing, comprehensive care and genetic counselling for family members 47 …”

Section: Resultsmentioning

confidence: 99%

European principles of care for women and girls with inherited bleeding disorders

Galen

Lavin²,

Skouw-Rasmussen³

et al. 2021

Haemophilia

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Introduction Despite increasing awareness of issues faced by women and girls with inherited BDs (WGBD), standards of care are lacking, with disparities in diagnosis and treatment for WGBD across Europe. We aimed to develop practical principles of care (PoC) to promote standardization of care for WGBD within European Haemophilia Treatment and Comprehensive Care Centres (HTC/CCCs). Methods The co‐creation process, supported by the European Association for Haemophilia and Allied Disorders, consisted of four multidisciplinary meetings with health care providers (HCPs) experienced in WGBD care, and European Haemophilia Consortium representatives, combined with broad patient and HCP consultations in the European haemophilia community. Relevant medical societies outside Europe were contacted for confirmation. Results We developed ten PoC for WGBD, stressing the importance and benefits of a centralized, multidisciplinary, comprehensive, family‐centred approach to support and manage WGBD during all life stages. These PoC emphasise the right to equitable access and quality of care for all people with BDs, irrespective of gender. Multiple medical societies outside Europe also confirmed their support for endorsement. Conclusions Ten PoC for WGBD evolved from an iterative process among stakeholders, supported by relevant medical societies worldwide. These PoC can serve as a benchmark for diagnosis and comprehensive multidisciplinary management of WGBD, and improve awareness of their unique challenges. They offer a framework to guide HTC/CCCs in providing equitable care for all WGBD, both in their own services and in other healthcare settings. Implementation of these principles aims to positively impact the health, wellbeing and quality of life for WGBD.

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Section: Resultsmentioning

confidence: 99%

European principles of care for women and girls with inherited bleeding disorders

Galen

Lavin²,

Skouw-Rasmussen³

et al. 2021

Haemophilia

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“…Several studies already reported significant details about carriers' reproductive choices in haemophilia and other hereditary disorders (avoidance of pregnancy or choice for PD and attitude to VTP in women who experienced complications of haemophilia), but they were primarily based on data collected with questionnaires or indirectly accrued from patients' histories. 13,14 A recent systematic review provided an exhaustive overview of all published articles on attitudes and experience of haemophilia carriers concerning pregnancy and reproductive options, showing the impact of quality of life of family PWH in decisionmaking, the importance of genetic counselling and the role of prenatal diagnosis, helpful but psychologically challenging; however, the authors underlined the need for studies that report 'real-life' experience about these topics. 15 The high number of cases is the main strength of the present study, which involves almost all severe PWH and suspected carri-ers referred to the regional haemophilia centres, who all underwent genetic counselling and molecular screening.…”

Section: Discussionmentioning

confidence: 99%

The effect of carriers’ reproductive choices and pregnancy history on sporadic severe haemophilia: A 20‐year retrospective study through a regional registry

et al. 2022

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Introduction Haemophilias are X‐linked inherited bleeding disorders, due to de novo F8/F9 gene variants in 30–50% of cases. The identification of causative variant in index cases (IC) is crucial for genetic counselling in related women. Over the last 20 years the Emilia‐Romagna Regional Haemophilia Registry documented high proportions of sporadic severe haemophilia. Aim To clarify if carriers’ reproductive choices influence the sporadic/familial ratio of severe haemophilia. Methods Genetic counselling and genotyping in 221 relatives of severe IC were retrospectively reviewed, retrieving reproductive choices and pregnancy history of childbearing‐age carriers from familial and sporadic pedigrees and according to the IC degree of relationship (mothers, daughters, II/other). Results Carriers’ identification rates were lower in sporadic women and in other‐degree relatives. Among childbearing age women (n = 140), carriers were 37/48 (77%) and 57/92 (62%) of familial and sporadic relatives, respectively. Forty‐five/57 sporadic carriers experienced 67 pregnancies, while 21/37 familial carriers had 39 pregnancies (four voluntary terminations), with a significantly higher number of affected sons in the former (40/67 vs. 12/35, P = .025). Prenatal diagnosis was chosen by 40% and 47% of sporadic and familial aware carriers, respectively. Sporadic mothers often avoided further pregnancies (17/38, 45%) after a firstborn affected child, while familial mothers tended to face pregnancies without prenatal approaches (6/10, 60%). Conclusion In this cohort sporadic offspring account for more than 70% of severe haemophilia cases. This increasing proportion is likely to reflect the influence in reproductive choices of awareness of carriers’ status, particularly in sporadic mothers, and of prenatal diagnosis options.

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“…Multiple papers have described outcomes among patients who switched to rFIXFc prophylaxis, with very consistent findings in clinical trials and in real‐world clinical settings (Table S2). 11,42–56 Typically, patients switching to rFIXFc prophylaxis experience reductions in injection frequency: the most common post‐switch rFIXFc dose interval is 7 days, but intervals of 10 or 14 days are also seen 11,42,43,45,46,49–51,53–56 . Factor consumption is also reduced after switching, generally by 26%–50%, to around 40–60 IU/kg/week 11,42,43,45,46,49–54,56 .…”

Section: Rfixfc In Clinical Practicementioning

confidence: 99%

“… 11,42–56 Typically, patients switching to rFIXFc prophylaxis experience reductions in injection frequency: the most common post‐switch rFIXFc dose interval is 7 days, but intervals of 10 or 14 days are also seen 11,42,43,45,46,49–51,53–56 . Factor consumption is also reduced after switching, generally by 26%–50%, to around 40–60 IU/kg/week 11,42,43,45,46,49–54,56 . Despite longer dose intervals and lower weekly factor use, patients switching from prophylaxis with other products to prophylaxis with rFIXFc show stable or improved bleed protection 11,42,43,45,46,49–56 .…”

Section: Rfixfc In Clinical Practicementioning

confidence: 99%

Recombinant factor IX Fc for the treatment of hemophilia B

Ljung,

Matino,

Shapiro

2024

European J of Haematology

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Current hemophilia B treatment guidelines recommend routine prophylaxis with factor IX (FIX) replacement products, tailored to maintain plasma activity at levels that will prevent bleeds. However, plasma FIX activity may not be the primary determinant or best indicator of hemostatic efficacy due to its extravascular distribution. FIX replacement therapy has evolved to include extended half‐life (EHL) products that provide effective bleed protection when administered at intervals of 7 days or longer. rFIXFc is a recombinant fusion protein with an extended circulation time. rFIXFc has a biodistribution profile consistent with distribution into extravascular space, where it may support hemostasis at sites of vessel injury independent of circulating plasma activity levels. The safety and efficacy of rFIXFc prophylaxis is well established in adults, adolescents and children including previously untreated patients with hemophilia B, with substantial evidence from clinical trials and real‐world clinical practice. This review describes the pharmacokinetic characteristics of rFIXFc, summarizes available safety and efficacy data, and evaluates the use of rFIXFc in special populations. Current hemophilia B treatment challenges, including target FIX plasma levels, perioperative use, and management of patients with comorbidities, are discussed together with the potential role of EHL products in the future treatment landscape of hemophilia B.

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Screening of haemophilia carriers in moderate and severe haemophilia A and B: Prevalence and determinants

Cited by 7 publications

References 7 publications

European principles of care for women and girls with inherited bleeding disorders

European principles of care for women and girls with inherited bleeding disorders

The effect of carriers’ reproductive choices and pregnancy history on sporadic severe haemophilia: A 20‐year retrospective study through a regional registry

Recombinant factor IX Fc for the treatment of hemophilia B

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