Department of Internal Medicine, Faculty of Clinical Medicine and Dentistry, Kampala International University, Kampala, Uganda.
Infectious Diseases Institute, Makerere University, Kampala, Uganda.
J Med Case Rep. 2024 Nov 21;18(1):556. doi: 10.1186/s13256-024-04858-9.
Sickle cell disease is a genetic disease with multisystem involvement. More than 300,000 children are born with sickle cell disease globally, with the majority of cases being in Sub-Saharan Africa. In Uganda, about 20,000 children are born with sickle cell disease annually, with more than three-quarters dying before the age of 5 years. Those who live beyond 5 years tend to have poor health-related quality of life, numerous complications, and recurrent hospitalizations. In developing countries, most symptomatic patients are diagnosed early in childhood. Few of those not screened in childhood tend to present in adulthood with variable symptoms.
This case reports a 22-year-old African male patient of Toro tribe who presented with paroxysms of multiple joint pain associated with generalized body malaise for about 6 months. He presented as a referral from a lower facility with an unestablished cause of symptoms. Physical examination revealed conjunctival pallor, icterus, and tenderness of joints. Cell counts showed anemia and hemoglobin electrophoresis revealed 87% of sickled hemoglobin.
This case report pinpoints the importance of considering the diagnosis of sickle cell disease even in adults presenting with symptoms of sickle cell disease. It also adds to the relevance of screening at all age groups, especially in high-endemic regions such as Africa and Asia.
镰状细胞病是一种多系统受累的遗传性疾病。在全球范围内，每年有超过 30 万名儿童患有镰状细胞病，其中大多数病例发生在撒哈拉以南非洲。在乌干达，每年约有 20,000 名儿童患有镰状细胞病，其中超过四分之三的儿童在 5 岁之前死亡。那些活过 5 岁的儿童往往生活质量较差，存在多种并发症，并经常住院。在发展中国家，大多数有症状的患者在儿童早期被诊断出来。少数在儿童时期未接受筛查的患者在成年后可能会出现各种症状。
本病例报告了一位 22 岁的 Toro 部落非洲男性患者，他因反复发作的多处关节疼痛和全身不适约 6 个月来就诊。他是从下级医疗机构转来的，病因不明。体格检查发现结膜苍白、黄疸和关节触痛。细胞计数显示贫血，血红蛋白电泳显示 87%的血红蛋白为镰状血红蛋白。
本病例报告强调了即使在出现镰状细胞病症状的成年患者中，也要考虑镰状细胞病的诊断。它还强调了在所有年龄段进行筛查的重要性，尤其是在非洲和亚洲等高发地区。
