Sickle cell disease in Australia: a snapshot from the Australian Haemoglobinopathy Registry.

Autor: Nelson A; Transfusion Research Unit, School of Public Health and Preventive Medicine, Monash University, Melbourne, Victoria, Australia.; Institute of Haematology, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia., Ho PJ; Institute of Haematology, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia.; Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia., Haysom H; Transfusion Research Unit, School of Public Health and Preventive Medicine, Monash University, Melbourne, Victoria, Australia., Waters N; Transfusion Research Unit, School of Public Health and Preventive Medicine, Monash University, Melbourne, Victoria, Australia., Wellard C; Transfusion Research Unit, School of Public Health and Preventive Medicine, Monash University, Melbourne, Victoria, Australia., Chee M; Transfusion Research Unit, School of Public Health and Preventive Medicine, Monash University, Melbourne, Victoria, Australia., Teo J; Department of Haematology, Children's Hospital Westmead, Sydney, New South Wales, Australia., Greenway A; Department of Haematology, Royal Children's Hospital, Melbourne, Victoria, Australia.; Department of Clinical Haematology, Monash Health, Melbourne, Victoria, Australia., Mason K; Department of Haematology, The Royal Melbourne Hospital, Melbourne, Victoria, Australia.; Department of Clinical Haematology, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia., Kidson-Gerber G; Department of Haematology, Prince of Wales Hospital, Sydney, New South Wales, Australia., Kaplan Z; Department of Clinical Haematology, Monash Health, Melbourne, Victoria, Australia., Carter T; Department of Haematology, Perth Children's Hospital, Perth, Western Australia, Australia., Cole-Sinclair MF; Department of Haematology, St Vincent's Hospital, Melbourne, Victoria, Australia., Barbaro P; Department of Haematology, Queensland Children's Hospital, Brisbane, Queensland, Australia., Wood EM; Transfusion Research Unit, School of Public Health and Preventive Medicine, Monash University, Melbourne, Victoria, Australia.; Department of Clinical Haematology, Monash Health, Melbourne, Victoria, Australia.
Jazyk: angličtina
Zdroj: Internal medicine journal [Intern Med J] 2024 May; Vol. 54 (5), pp. 764-772. Date of Electronic Publication: 2023 Dec 08.
DOI: 10.1111/imj.16297
Abstrakt: Background: Sickle cell disease (SCD) is the most common monogenic disorder worldwide. In deoxygenated conditions, the altered beta chain (haemoglobin S [HbS]) polymerises and distorts the erythrocyte, resulting in pain crises, vasculopathy and end-organ damage. Clinical complications of SCD cause substantial morbidity, and therapy demands expertise and resources. Optimising care for patients and planning resource allocation for the future requires an understanding of the disease in the Australian population. The Australian Haemoglobinopathy Registry (HbR) is a collaborative initiative of specialist centres collating and analysing data on patients with haemoglobin disorders.
Aims: To provide a snapshot of SCD in Australia over a 12-month period based on data from the HbR.
Methods: Patients with a clinically significant sickling disorder across 12 clinical sites were included for analysis. Data include demographic and diagnostic details, as well as details of the clinical management of the condition over a 12-month period.
Results: Data on 359 SCD patients demonstrate a shift in the demographic of patients in Australia, with a growing proportion of sub-Saharan African ethnicities associated with the HbSS genotype. Acute and chronic complications are common, and patients require significant outpatient and inpatient support. Prevalence of disease complications and therapeutic trends are in keeping with other high-income countries.
Conclusions: This study provides the first national picture of SCD in Australia, describing the characteristics and needs of SCD patients, elucidating demand for current and novel therapy and facilitating the planning of services for this vulnerable population.
(© 2023 The Authors. Internal Medicine Journal published by John Wiley & Sons Australia, Ltd on behalf of Royal Australasian College of Physicians.)
Databáze: MEDLINE
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