Children's National Hospital, Washington, DC, USA.
Department of Pediatrics, The George Washington University School of Medicine and Health Sciences, Washington, DC, USA.
BMC Public Health. 2021 Sep 22;21(1):1719. doi: 10.1186/s12889-021-11794-6.
Despite having the highest prevalence of sickle cell disease (SCD) in the world, no country in Sub-Saharan Africa has a universal screening program for the disease. We sought to capture the diagnosis patterns of SCD (age at SCD diagnosis, method of SCD diagnosis, and age of first pain crisis) in Accra, Ghana.
We administered an in-person, voluntary survey to parents of offspring with SCD between 2009 and 2013 in Accra as a part of a larger study and conducted a secondary data analysis to determine diagnosis patterns. This was conducted at a single site: a large academic medical center in the region. Univariate analyses were performed on diagnosis patterns; bivariate analyses were conducted to determine whether patterns differed by participant's age (children: those < 18 years old whose parents completed a survey about them, compared to adults: those > = 18 years old whose parents completed a survey about them), or their disease severity based on SCD genotype. Pearson's chi-squared were calculated.
Data was collected on 354 unique participants from parents. Few were diagnosed via SCD testing in the newborn period. Only 44% were diagnosed with SCD by age four; 46% had experienced a pain crisis by the same age. Most (66%) were diagnosed during pain crisis, either in acute (49%) or primary care (17%) settings. Children were diagnosed with SCD at an earlier age (74% by four years old); among the adults, parents reflected that 30% were diagnosed by four years old (p < 0.001). Half with severe forms of SCD were diagnosed by age four, compared to 31% with mild forms of the disease (p = 0.009).
The lack of a robust newborn screening program for SCD in Accra, Ghana, leaves children at risk for disease complications and death. People in our sample were diagnosed with SCD in the acute care setting, and in their toddler or school-age years or thereafter, meaning they are likely being excluded from important preventive care. Understanding current SCD diagnosis patterns in the region can inform efforts to improve the timeliness of SCD diagnosis, and improve the mortality and morbidity caused by the disease in this high prevalence population.
尽管撒哈拉以南非洲国家的镰状细胞病（SCD）患病率最高，但没有一个国家制定了该疾病的普遍筛查计划。我们试图在加纳阿克拉地区捕捉 SCD 的诊断模式（SCD 诊断年龄、SCD 诊断方法和首次疼痛危机年龄）。
我们在 2009 年至 2013 年期间对阿克拉地区 SCD 患儿的父母进行了面对面的自愿调查，作为一项更大研究的一部分，并进行了二次数据分析以确定诊断模式。这项研究是在一个单一的地点进行的：该地区的一家大型学术医疗中心。我们对诊断模式进行了单变量分析；进行了双变量分析，以确定模式是否因参与者的年龄（儿童：小于 18 岁，其父母完成了关于他们的调查，与成人：大于等于 18 岁，其父母完成了关于他们的调查）或他们的疾病严重程度（根据 SCD 基因型）而有所不同。计算了 Pearson's 卡方。
从父母那里收集了 354 名独特参与者的数据。很少有在新生儿期通过 SCD 检测进行诊断的。只有 44%在四岁时被诊断为 SCD；46%在同一年龄时经历了疼痛危机。大多数（66%）是在疼痛危机期间被诊断出来的，要么是在急性（49%）或初级保健（17%）环境中。儿童在更年幼的年龄（74%在四岁时）被诊断出患有 SCD；在成年人中，父母反映有 30%在四岁时被诊断（p<0.001）。一半患有严重形式的 SCD 在四岁时被诊断出来，而患有轻度形式的 SCD 的比例为 31%（p=0.009）。
加纳阿克拉缺乏健全的 SCD 新生儿筛查计划，使儿童面临疾病并发症和死亡的风险。我们样本中的人在急症护理环境中被诊断出患有 SCD，并且在他们的幼儿或学龄期或之后，这意味着他们可能被排除在重要的预防保健之外。了解该地区当前的 SCD 诊断模式可以为改善 SCD 诊断的及时性以及改善该高流行人群中该疾病的死亡率和发病率提供信息。
