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.

中文翻译：

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加纳镰状细胞病的诊断模式：二次分析

尽管镰状细胞病 (SCD) 的患病率在世界上最高，但撒哈拉以南非洲没有一个国家拥有针对该疾病的普遍筛查计划。我们试图捕捉加纳阿克拉的 SCD 诊断模式（SCD 诊断年龄、SCD 诊断方法和首次疼痛危象的年龄）。作为一项大型研究的一部分，我们于 2009 年至 2013 年期间在阿克拉对患有 SCD 的后代的父母进行了面对面的自愿调查，并进行了二次数据分析以确定诊断模式。这是在一个地点进行的：该地区的一个大型学术医疗中心。对诊断模式进行单变量分析；进行了双变量分析以确定模式是否因参与者的年龄而异（儿童：父母完成了关于他们的调查的年龄小于 18 岁的儿童，与成人相比：> = 18 岁，其父母完成了关于他们的调查），或基于 SCD 基因型的疾病严重程度。计算皮尔逊卡方。收集了来自父母的 354 名独特参与者的数据。很少有人在新生儿期通过 SCD 检测得到诊断。只有 44% 的人在 4 岁时被诊断出患有 SCD；46% 的人在同龄时经历过疼痛危机。大多数 (66%) 是在急性疼痛 (49%) 或初级保健 (17%) 环境中诊断出的。儿童在较早的年龄被诊断出患有 SCD（4 岁时为 74%）；在成年人中，父母反映有 30% 是在 4 岁时被诊断出来的（p < 0.001）。半数患有严重 SCD 的患者在 4 岁时被诊断出来，相比之下，31% 患有轻度 SCD（p = 0.009）。加纳阿克拉缺乏强有力的新生儿 SCD 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性护理环境中被诊断出患有 SCD，在他们蹒跚学步或学龄或之后的年龄，这意味着他们很可能被排除在重要的预防性护理之外。了解该地区当前的 SCD 诊断模式有助于提高 SCD 诊断的及时性，并在这一高患病率人群中改善由该疾病引起的死亡率和发病率。