Centre of Excellence for Sickle Cell Disease Research & Training, University of Abuja (CESRTA), Abuja, Federal Capital Territory, Nigeria.
Department of Paediatrics, Obafemi Awolowo University Teaching Hospital, Ile Ife, Nigeria.
Blood Cells Mol Dis. 2020 Sep;84:102438. doi: 10.1016/j.bcmd.2020.102438. Epub 2020 Apr 23.
BACKGROUND/OBJECTIVE: Sickle cell disease (SCD) is a monogenic disease with multiple phenotypic expressions. Previous studies describing SCD clinical phenotypes in Nigeria were localized, with limited data, hence the need to understand how SCD varies across Nigeria.
The Sickle Pan African Research Consortium (SPARCO) with a hub in Tanzania and collaborative sites in Tanzania, Ghana and Nigeria, is establishing a single patient-consented electronic database with a target of 13,000 SCD patients. In collaboration with the Sickle Cell Support Society of Nigeria, 20 hospitals, with paediatric and adult SCD clinics, are participating in patient recruitment. Demographic and clinical information, collected with uniform case report forms, were entered into Excel spreadsheets and uploaded into Research Electronic Data Capture software by trained data clerks and frequency tables generated.
Data were available on 3622 patients enrolled in the database, comprising 1889 (52.9%) females and 1434 (39.6%) children ≤15 years. The frequencies of Hb SS, Hb SC and Hb Sβ thalassemia in this data set were 97.5%, 2.5% and 0% respectively. Sixty percent, 23.8%, 5.9%, 4.8% and 2.5% have had bone pain crisis, dactylitis, acute chest syndrome, priapism and stroke respectively. The most frequent chronic complications were: leg ulcers (6.5%), avascular necrosis of bone (6.0%), renal (6.3%) and pulmonary hypertension (1.1%). Only 13.2% had been hospitalized while 67.5% had received blood transfusion.
These data on the spectrum of clinical phenotypes of SCD are useful for planning, improving the management of SCD across Nigeria and provide a foundation for genomic research on SCD.
背景/目的：镰状细胞病（SCD）是一种具有多种表型表现的单基因疾病。以前在尼日利亚描述 SCD 临床表型的研究是局部的，数据有限，因此需要了解 SCD 在尼日利亚的变化情况。
镰状细胞泛非研究联合会（SPARCO）在坦桑尼亚设有一个中心，在坦桑尼亚、加纳和尼日利亚设有合作站点，正在建立一个单一的患者同意的电子数据库，目标是有 13000 名 SCD 患者。与尼日利亚镰状细胞支持协会合作，有 20 家医院，包括儿科和成人 SCD 诊所，正在参与患者招募。具有统一病例报告表的人口统计学和临床信息被输入 Excel 电子表格，并由经过培训的数据录入员上传到 Research Electronic Data Capture 软件中，并生成频率表。
数据库中已有 3622 名患者的数据，其中包括 1889 名（52.9%）女性和 1434 名（39.6%）≤15 岁的儿童。该数据集的 Hb SS、Hb SC 和 Hb Sβ 地中海贫血的频率分别为 97.5%、2.5%和 0%。60%、23.8%、5.9%、4.8%和 2.5%分别经历过骨痛危象、指（趾）炎、急性胸部综合征、阴茎异常勃起和中风。最常见的慢性并发症是：腿部溃疡（6.5%）、骨无菌性坏死（6.0%）、肾脏（6.3%）和肺动脉高压（1.1%）。只有 13.2%的患者住院，而 67.5%的患者接受了输血。
这些关于 SCD 临床表型谱的数据有助于规划、改善尼日利亚的 SCD 管理，并为 SCD 的基因组研究提供基础。
