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Patients in regional and remote Australia face major barriers to bleeding disorder diagnosis and management due to limited expertise, transport delays, and lack of specialised testing. These challenges disproportionately affect Aboriginal and Torres Strait Islander peoples.
Bleeding disorders comprise a heterogeneous group of inherited and acquired conditions characterised by impaired haemostasis, leading to excessive or unexplained bleeding. They include deficiencies of coagulation factors such as haemophilia A and B, von Willebrand disease, inherited and acquired platelet function defects, and rarer factor deficiencies as well as disorders of fibrinolysis. Clinical presentation ranges from mild mucocutaneous bleeding to life-threatening haemorrhage, and while severe disorders are often diagnosed in childhood, mild to moderate bleeding disorders may not be suspected or diagnosed until adulthood or at a time of haemostatic challenge such as dental extraction, surgery or childbirth. Unlike many other medical conditions, bleeding disorders cannot be reliably diagnosed on clinical features alone but require a high index of suspicion, detailed knowledge of the haemostatic pathways, and specialist testing. Inaccurate or delayed testing may result in missed diagnoses or inappropriate management, leading to potentially severe complications and impacting on quality of life.
Patients in regional and remote Australia face considerable barriers in the diagnostic work-up of suspected inherited and acquired bleeding disorders. Unlike metropolitan centres, where specialist expertise and advanced laboratory testing are accessible, regional work-up is frequently undermined by systemic obstacles.
There is limited exposure to bleeding disorders during medical and haematology training in regional settings. Even in urban programs, insufficient clinical exposure to both congenital and acquired bleeding disorders has been identified, prompting calls for curriculum changes and dedicated clinic rotations to address this shortfall in countries such as the United States and Canada. This gap is magnified in regional centres, contributing to fragmented diagnostic pathways and delayed referrals.
Factor assays are highly susceptible to pre-analytical error, encompassing all aspects of collection, processing, and transport. Accurate results require careful venepuncture, correct tube filling, and prompt centrifugation, with plasma prepared and tested or frozen within four hours of collection. In regional centres, this expertise is not always available, and samples are transported long distances leading to degradation of labile factors and spurious results.
Platelet function testing is also unavailable in most regional centres. Clinicians must rely on the PFA-100 analyser, despite evidence showing its limited reliability for diagnosing heritable platelet-function disorders, or refer patients to tertiary centres for light-transmission aggregometry, requiring long-distance travel, as testing is only accurate within four hours of collection.
These challenges disproportionately affect Aboriginal and Torres Strait Islander peoples, who are more likely to reside in regional and remote areas. Limited access to timely and accurate bleeding-disorder work-up compounds existing health inequities and may delay or preclude diagnoses in these communities.
Furthermore, the consequences of underdiagnosing bleeding disorders may be more significant in regional areas given the relative lack of expertise in managing such patients with spontaneous bleeding or in the perioperative setting.
Addressing these gaps requires investment in regional diagnostic infrastructure, robust clinician and scientist training, and consideration of specimen-transport networks, as well as better integration between regional laboratories and haemophilia centres. Strengthening telehealth support and establishing regional haemostasis services are practical steps. Training pathways should prioritise greater exposure to haemostasis and thrombosis during haematology and physician training, and consideration should be given to targeted recruitment of haematologists who have a special interest in this field to regional centres. Looking ahead, the rapid growth of thrombogenomic testing offers an opportunity to mitigate many of these barriers through earlier, more precise diagnoses and through augmenting other specialist laboratory testing — so long as equitable access to genomic technologies is ensured for regional populations.
Dr Kirollos Kamel is a clinical and laboratory haematologist from Townsville, Queensland. His subspecialty interest is in classical haematology including haemostasis and thrombosis, haemoglobinopathies, immune haematology and transfusion medicine. He has a passion for medical education and interdisciplinary collaboration to improve patient outcomes.
A/Prof Joel Wight is a clinical and laboratory haematologist from Townsville, Queensland. Though his main clinical interest is in haematological malignancy, his major passion is to improve the quality of and access to haematology services for those in underserved rural, regional and remote communities.
The authors do not work for, consult, own shares in or receive funding from any company or organisation that would benefit from this article, and have disclosed no relevant affiliations beyond their academic appointment.
The statements or opinions expressed in this article reflect the views of the authors and do not necessarily represent the official policy of the AMA, the MJA or InSight+ unless so stated.
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