Objectives: A pilot study to evaluate the knowledge about haemophilia in the families enrolled in the Lucknow Haemophilia Society (India), and to assess their attitudes towards prenatal diagnosis (PND).
Methods: A questionnaire to assess the knowledge about haemophilia (questionnaire A) and another questionnaire to assess the attitude towards PND (questionnaire B) were distributed. PND was performed by DNA-based linkage analysis.
Results: There was a positive correlation between the knowledge about the disease and the frequency of attending the monthly meetings of the society. The majority of respondents felt that they would opt for termination of pregnancy if the fetus was affected.
Conclusion: Haemophilia societies act as strong media in educating affected families. Multiple factors affect the attitude towards PND and abortion of affected fetuses.
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http://dx.doi.org/10.1159/000073008 | DOI Listing |
Orphanet J Rare Dis
January 2025
Department of Physical and Rehabilitation Medicine, La Paz University Hospital (IdiPaz), Madrid, Spain.
Background: Clinical research has offered many definitions and fragmented perspectives of joint morbidity in haemophilia. As joint damage, pain and mobility impairment can be present without clinical record of persistent bleeding, a person-centric joint morbidity characterisation remained a priority for the haemophilia community, giving rise to the 'problem joint' concept. As diagnosing and managing joint morbidity is critical, the aim of this study was to analyse the holistic burden of problem joints in people with moderate or severe haemophilia A (HA).
View Article and Find Full Text PDFClin Appl Thromb Hemost
December 2024
Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA.
Background: Prophylaxis with a von Willebrand factor (VWF) concentrate is recommended in von Willebrand disease (VWD) patients with a history of frequent and severe bleeds. Despite nosebleeds being a frequent manifestation of VWD, few studies have investigated the efficacy of factor prophylaxis in preventing nosebleeds in patients with severe VWD.
Methods: This post-hoc analysis of a prospective, 12-month, phase 3 study assessed the efficacy of wilate in the prevention of nosebleeds in 33 patients aged ≥6 years with severe type 1, type 2 or type 3 VWD.
Res Pract Thromb Haemost
November 2024
Department of Orthopedics and Trauma Surgery, University of Bonn, Bonn, Germany.
Background: Evidence states that persons with hemophilia are frequently affected by low bone mineral density (BMD). Data assessing the relationship between severity of hemophilia and occurrence of osteoporosis are lacking.
Objectives: This prospective cohort study aimed to assess the impact of hemophilia severity on BMD and to investigate trabecular bone score (TBS) and fracture risk (FRAX).
Background: Glanzmann thrombasthenia (GT) is a rare disease with an autosomal recessive inheritance pattern. This disorder is not so uncommonly encountered in routine clinical practice and laboratory settings in Pakistan let alone in the rest of the world. To describe the bleeding phenotype of GT and treatment outcomes in over one hundred patients in north Pakistan.
View Article and Find Full Text PDFJ Thromb Haemost
December 2024
Department of Medicine, Queen's University, Kingston, Ontario, Canada. Electronic address:
The history of hemophilia is well documented, yet reports focus heavily on the male perspective and severe forms of the disease. Although hemophilia was initially believed to only affect men with women seen as silent carriers, it is now universally acknowledged that women and girls can also be affected. In this narrative review, we tracked the progression of beliefs about women and hemophilia as documented in the literature from pre-1800s to the present time.
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