This study aimed at exploring the hematologists' internal representation of a difficult encounter with a hemophilic patient, using a written open format. Narrations were analyzed with Interpretative Phenomenological Analysis. Three main issues were identified, each with sub-issues: (1) Inside the relationship: to tell or not to tell, the balance between a normal life and a deviant medical condition, the guilt; (2) The borders of the professional role: professional values, the "do-it-all" doctor; and (3) The existential confrontation. This study reveals the deep involvement of physicians with their patients, at a professional level and, strongly, at a personal level. The experience of being so deeply involved should be considered in the continuing medical programs for physicians dealing with hemophilia.
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http://dx.doi.org/10.1177/1359105313493813 | DOI Listing |
Res Pract Thromb Haemost
January 2025
Dipartimento di Fisiopatologia Medico-chirurgica e dei Trapianti, Università degli Studi di Milano, Milano, Italia.
Hemophilia A and B are hereditary bleeding disorders associated with the X chromosome, stemming from genetic defects in the coding of coagulation factor (F)VIII or FIX protein, leading to partial or complete deficiency. In the absence of effective prophylaxis, these deficiencies can result in irreversible joint damage, known as hemophilic arthropathy, and subsequent disability. Despite advancements in hemophilia treatment, individuals with severe forms of the disease continue to face a high risk of bleeding, particularly in instances of trauma or major surgical procedures.
View Article and Find Full Text PDFTurk J Pediatr
December 2024
Division of Pediatric Hematology and Oncology, Department of Pediatrics, İstanbul Faculty of Medicine, İstanbul University, İstanbul, Türkiye.
Background: Patients with hemophilia should be evaluated for joint health and overall health in their visits. The aims of this study were to evaluate joint health and health-related quality of life (HRQoL) in patients with mild, moderate, and severe hemophilia; determine which patient groups to focus on and whether there are any neglected patient groups.
Methods: This was a single-center, cross-sectional study.
Res Pract Thromb Haemost
November 2024
Department of Haematology, Oslo University Hospital, Oslo, Norway.
Background: The impact of nonneutralizing antibodies (NNAs) in moderate hemophilia is elusive.
Objectives: To explore the presence of NNAs in Nordic persons with moderate hemophilia A (MHA) and B (MHB) in relation to treatment modality, clinical outcome, history of inhibitor, and the corresponding factor VIII (FVIII)/factor IX (FIX) gene mutation.
Methods: A cross-sectional multicenter study covering persons with MHA and MHB in Sweden, Finland, and Norway.
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 PDFRev Bras Ortop (Sao Paulo)
November 2024
Departamento de Cirurgia Ortopédica, Fundación Cardioinfantil, Instituto de Cardiología, Bogotá, Colômbia.
Patients with hemophilia disease have a high risk of hemorrhage. Most hemorrhages can occur in the musculoskeletal system, presenting as hematomas, or, in rare occasions, as hemophilic pseudotumors, an uncommon pathology that are often misdiagnosed as musculoskeletal tumors because of their clinical behavior and characteristics on diagnostic imaging. Despite many treatment options, surgical excision is the treatment of choice.
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