Abstract：
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.
OBJECTIVE: 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.
OBJECTIVE: 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.
摘要：
背景：镰状细胞病（SCD）是世界范围内最常见的单基因疾病。在脱氧条件下，改变的β链（血红蛋白S[HbS]）聚合和扭曲红细胞，导致疼痛危机，血管病变和终末器官损伤。SCD的临床并发症导致大量发病率，和治疗需要专业知识和资源。优化对患者的护理和规划未来的资源分配需要了解澳大利亚人口中的疾病。澳大利亚血红蛋白病登记处（HbR）是专科中心的一项合作计划，旨在整理和分析血红蛋白病患者的数据。
目的：根据来自HbR的数据，提供澳大利亚12个月期间SCD的快照。
方法：纳入了12个临床部位的具有临床意义的镰刀病患者进行分析。数据包括人口统计和诊断细节，以及12个月内病情的临床管理细节。
结果：359名SCD患者的数据表明，澳大利亚患者的人口统计发生了变化，与HbSS基因型相关的撒哈拉以南非洲种族比例越来越高。急性和慢性并发症很常见，患者需要大量的门诊和住院支持。疾病并发症的患病率和治疗趋势与其他高收入国家一致。
结论：这项研究提供了澳大利亚SCD的第一张全国图片，描述SCD患者的特征和需求，阐明对当前和新疗法的需求，并促进为这一弱势群体规划服务。
目的：根据来自HbR的数据，提供澳大利亚12个月期间SCD的快照。
方法：纳入了12个临床部位的具有临床意义的镰刀病患者进行分析。数据包括人口统计和诊断细节，以及12个月内病情的临床管理细节。
结果：359名SCD患者的数据表明，澳大利亚患者的人口统计发生了变化，与HbSS基因型相关的撒哈拉以南非洲种族比例越来越高。急性和慢性并发症很常见，患者需要大量的门诊和住院支持。疾病并发症的患病率和治疗趋势与其他高收入国家一致。
结论：这项研究提供了澳大利亚SCD的第一张全国图片，描述SCD患者的特征和需求，阐明对当前和新疗法的需求，并促进为这一弱势群体规划服务。
