Article
Obstetrics & Gynecology
Luis D. Pacheco, George R. Saade, Andra H. James
Summary: The maternal and fetal implications of inherited bleeding disorders include von Willebrand disease (VWD), hemophilia, other congenital clotting factor deficiencies, inherited platelet disorders, defects of fibrinolysis, and connective tissue disorders. The most common diagnosed bleeding disorder among women is VWD, while other bleeding disorders, such as hemophilia carriership, are less common. Management for maternal includes obtaining clotting factor levels, planning for delivery at a center with hemostasis expertise, and using hemostatic agents. Fetal management includes prepregnancy counseling, preimplantation genetic testing, and consideration of cesarean delivery for potentially affected male neonates with hemophilia.
OBSTETRICS AND GYNECOLOGY
(2023)
Review
Hematology
Nicola Curry, Louise Bowles, T. Justin Clark, Gillian Lowe, Jason Mainwaring, Sarah Mangles, Bethan Myers, Rezan Abdul Kadir
Summary: This guideline provides recommendations for the diagnosis and management of women with inherited bleeding disorders (IBDs), particularly focusing on heavy menstrual bleeding (HMB). It highlights the importance of multidisciplinary specialized care and cross-specialty communication between gynaecology and haematology teams.
Article
Obstetrics & Gynecology
Lisa Clarke, Jennifer Curnow, Briony Cutts, Bryony Ross, Giselle Kidson-Gerber
Summary: This retrospective cohort study examined the characteristics and outcomes of women with inherited bleeding disorders during pregnancy and birth. The results showed that, despite adherence to best practices, postpartum hemorrhage occurred at higher rates than in the general population. These findings raise concerns over the current definition of "adequate" factor levels at the time of birth.
BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY
(2022)
Article
Hematology
A. Kinga Malinowski, Rezan Abdul-Kadir
Summary: Inherited bleeding disorders, including von Willebrand disease, hemophilia A, and hemophilia B, have diverse clinical phenotypes and can adversely affect pregnancy, birth, and the puerperium. Obstetric challenges may also reveal previously unknown inherited bleeding disorders.
SEMINARS IN THROMBOSIS AND HEMOSTASIS
(2023)
Article
Hematology
Eveline P. Mauser-Bunschoten, Rezan A. Kadir, Ellen T. M. Laan, Petra Elfvinge, Lotte Haverman, Lorynn Teela, Manon E. L. Degenaar, Dietje E. Fransen van de Putte, Roseline D'Oiron, Karin P. M. van Galen
Summary: Multidisciplinary management of women with bleeding disorders is crucial in addressing the challenges they face both physically and psychologically, especially in regards to menstrual cycles and pregnancy planning.
Article
Hematology
Jill M. Johnsen, Hayley J. MacKinnon
Summary: Individuals with inherited bleeding disorders (IBDs) have a higher risk of bleeding during pregnancy, childbirth, and the postpartum period. Clinical management requires a personalized multidisciplinary approach and involving the patient in decision making.
JOURNAL OF THROMBOSIS AND HAEMOSTASIS
(2022)
Article
Hematology
Sumedha Arya, Pamela Wilton, David Page, Laurence Boma-Fischer, Georgina Floros, Rochelle Winikoff, Jerome Teitel, Katie Dainty, Michelle Sholzberg
Summary: Women with inherited bleeding disorders face barriers to care, including healthcare provider awareness, symptom dismissal, limited access to specialized care, and the need for self-education and advocacy. Key knowledge and care gaps identified in this study could be addressed with awareness and educational initiatives, such as patient education on vaginal blood loss and telehealth for patients far from treatment centers.
JOURNAL OF THROMBOSIS AND HAEMOSTASIS
(2021)
Article
Hematology
Lisa Clarke, Peta M. Dennington, Jennifer Curnow
Summary: This study aimed to evaluate the outcomes of adult patients with inherited bleeding disorders undergoing elective surgery in NSW/ACT, Australia, and assess their adherence to guidelines. The results showed low complication rates in surgeries, but also indicated non-compliance with published guidelines in certain areas.
Article
Hematology
Valder R. Arruda, Jesse Weber, Benjamin J. Samelson-Jones
Summary: Gene therapy for hemophilia has seen success due to advances in the field and specific breakthroughs in disease treatment. Additionally, research is being done on gene transfer methods for other rare inherited bleeding disorders.
SEMINARS IN THROMBOSIS AND HEMOSTASIS
(2021)
Article
Oncology
Irtiza N. Sheikh, Lakshmi Srivaths, Emma Li, Orna Steinberg-Shemer, Noa Mandel-Shorer, Gili Kenet, Assaf A. Barg
Summary: In patients with inherited bleeding disorders, managing thrombosis and bleeding presents a challenge. Current pediatric antithrombotic therapy guidelines do not address the treatment of thrombosis in the context of a bleeding disorder. This case series presents four children with inherited bleeding disorders who developed cerebral sinus venous thrombosis and bleeding, aiming to summarize different therapeutic approaches and outcomes.
PEDIATRIC BLOOD & CANCER
(2022)
Article
Clinical Neurology
Sangeetha Yoganathan, Madhan Kumar, Suvasini Sharma, Smruti Patel, Sumita Danda, Maya Thomas
Summary: A 5-year-old girl presented with myoclonus and frequent falls for 2.5 years. A pathogenic heterozygous nonsense variant in exon 3 of the SGCE gene was identified.
Article
Hematology
Karin van Galen, Michelle Lavin, Naja Skouw-Rasmussen, Kathelijn Fischer, Declan Noone, Debra Pollard, Eveline Mauser-Bunschoten, Kate Khair, Keith Gomez, Ellen van Loon, Catherine N. Bagot, Petra Elfvinge, Roseline d'Oiron, Rezan Abdul-Kadir
Summary: The study aimed to develop practical principles of care for women and girls with inherited BDs in European Haemophilia Treatment and Comprehensive Care Centres. These principles emphasize the importance of a centralized, multidisciplinary, family-centered approach to care, and equal access to quality care for all individuals with BDs. Multiple medical societies outside Europe also confirmed their support for these principles, which aim to positively impact the health, wellbeing, and quality of life of women and girls with inherited BDs.
Review
Hematology
Valder R. Arruda, David Lillicrap, Roland W. Herzog
Summary: The article introduces the possible causes of coagulation disorders and main strategies to address the immune responses, including immune tolerance induction, immune suppression therapies, and the development of drugs that bypass antibodies. In addition, the article discusses novel immunotherapy approaches still in the preclinical phase, such as cellular immunotherapies, gene therapy, and oral antigen administration.
Review
Hematology
Valder R. Arruda, David Lillicrap, Roland W. Herzog
Summary: The article discusses the risks of bleeding caused by disorders of coagulation resulting from autoantibody formation or mutations in genes encoding coagulation factors. It also outlines strategies to address immune responses against important clotting factor protein drugs and the selection of immune or alternative therapies for inherited and autoimmune bleeding disorders.
Article
Multidisciplinary Sciences
Sarang Younesi, Mohammad Mahdi Taheri Amin, Sedigheh Hantoushzadeh, Pourandokht Saadati, Soudabeh Jamali, Mohammad-Hossein Modarressi, Shahram Savad, Saeed Delshad, Saloomeh Amidi, Taraneh Geranorimi, Fariba Navidpour, Soudeh Ghafouri-Fard
Summary: This study aimed to assess the karyotypes of amniotic fluid cells in 15,401 pregnant women and found that 90.2% of fetuses had normal karyotypes, while 7.2% had abnormal karyotypes and 2.8% had normal polymorphisms. Various chromosomal abnormalities were detected, including Down syndrome, Edward's syndrome, and sex chromosomal abnormalities. The study also compared rates of chromosomal abnormalities in different patient groups, providing insights for appropriate indications for amniocentesis in Iran.
SCIENTIFIC REPORTS
(2021)