Calls for national haemoglobinopathy registry


A united national approach to screening for and treating haemoglobinopathies such as thalassaemia and sickle cell disease (SCD) is needed to meet the growing burden of the diseases in Australia, say researchers.

Increasing migration to Australia, especially from areas where haemoglobinopathies (Hb) disorders are endemic, including the Mediterranean, Middle East, Africa and Asia, is contributing to Australia’s already diverse ethnicity, with anecdotal reports from haemoglobinopathy units that numbers are on the way up.

Increased antenatal screening is also contributing to the rise in cases.

But a review in the Internal Medicine Journal has revealed there has been little data collected on a national level, while inconsistent screening practices from state to state have made it difficult to clearly understand the magnitude of the problem in Australia.

“Current information on the prevalence of Hb disorders in Australia is overdue,” the authors wrote.

“Gathering local epidemiological data is essential to outline and assess the magnitude of these health conditions, determine specific patient needs, allocate resources appropriately and develop new healthcare policy.”

Lead author Dr Gemma Crighton, Monash University Department of Epidemiology and Preventive Medicine research fellow and paediatric haematologist at the Royal Children’s Hospital, Melbourne, said there needed to be a national approach to screening for and treating haemoglobinopathies.

This should be underpinned by the setting up of a national surveillance system to establish the numbers of affected Australians, as the development of a national registry.

“I think the key message for clinicians is that this is going to become an increasing health issue for Australia, and we need support for a national registry,” she told the limbic.

“We really do need a national approach when it comes to gathering information, and also having a uniform approach to screening and follow-up.”

The authors were optimistic about Australia’s ability to respond to the increasing incidence of haemoglobinopathies, and there were already strong gains in carrier screening programs, therapeutic HSCT and gene therapy trials.

“Better uptake of pre-conception and antenatal haemoglobinopathy screening of pregnant women with appropriate genetic counselling, development of national policy and local guidelines with improved education of patients and clinicians will all provide short and longer-term benefits,” they wrote.

Dr Crighton said moves were already underway to establish a national registry and showing good promise.

The pilot Australian Haemoglobinopathy Registry has already collected data from more than 200 consented patients at three sites. A further seven sites are expected to commence data submission shortly and over the next few years more hospitals are expected to join.

This registry will monitor trends in incidence and survival, explore variation in practice, describe factors that influence access to care and patient outcomes including survival and quality of life (QoL), benchmark outcomes nationally and internationally, and act as a resource for policy development and clinical trials.

Dr Crighton said it was important to support this initiative as out health system is likely to be challenged in the future to diagnose, treat and monitor more patients with haemoglobinopathies

“I think it is very early days but I am optimistic we can do it if we get the support,” she said.

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