Ugwu Ngozi Immaculata, Nna Emmanuel Okechukwu, Egwu Agama Nnachi, Okoye Ejike Augustine
Department of Haematology and Immunology, Faculty of Clinical Medicine, College of Health Sciences, Ebonyi State University, Abakaliki, Ebonyi State, Nigeria.
Department of Haematology and Transfusion Medicine, Alex Ekwueme Federal University Teaching Hospital, Abakaliki, Ebonyi State, Nigeria.
Niger Med J. 2020 Mar-Apr;61(2):106-109. doi: 10.4103/nmj.NMJ_220_19. Epub 2020 May 7.
Sickle cell anemia (SCA) is an inherited disorder of hemoglobin due to the presence of abnormal hemoglobin in a homozygous state. Manifestation is usually in infancy or early childhood due to gradual decrease in hemoglobin F level as age advances. Diagnosis in middle age is unusual. We present a woman who was diagnosed of SCA for the first time at middle age. The aim was to bring to the knowledge of physicians that patients with SCA can also present late so high index of suspicion is required to make diagnosis. A 52-year-old woman presented to orthopedic clinic with complaints of generalized bone pain and low back pain. There was no history of trauma prior to the onset of the pain. There was no associated fever, weight loss, loss of appetite, nor weakness of the lower limbs. X-ray of the spine done showed wedge collapse of the 12 thoracic and first lumbar vertebrae with posterior angulation of the thoracolumbar junction giving dorsal kyphosis. Her mode of presentation raised a suspicion of tuberculosis of the spine to rule out multiple myeloma. However, investigations for tuberculosis and multiple myeloma were all negative. This necessitated the investigation for SCA and the diagnosis was confirmed. The diagnosis of SCA is usually made in infancy or early childhood. High index of suspicion is required to make the diagnosis at middle age.
镰状细胞贫血（SCA）是一种由于纯合状态下存在异常血红蛋白而导致的血红蛋白遗传性疾病。随着年龄增长，血红蛋白F水平逐渐下降，其症状通常在婴儿期或幼儿期出现。中年时被诊断出该病的情况并不常见。我们报告一位在中年时首次被诊断为SCA的女性。目的是让医生了解SCA患者也可能出现较晚的症状，因此需要高度怀疑指数才能做出诊断。一名52岁女性因全身骨痛和腰痛就诊于骨科诊所。疼痛发作前无外伤史。无相关发热、体重减轻、食欲不振及下肢无力症状。脊柱X线检查显示第12胸椎和第1腰椎楔形压缩，胸腰段交界处后凸成角，导致背部脊柱后凸。她的表现方式引发了对脊柱结核的怀疑，以排除多发性骨髓瘤。然而，针对结核和多发性骨髓瘤的检查均为阴性。这就需要对SCA进行检查，并确诊。SCA的诊断通常在婴儿期或幼儿期做出。中年时做出诊断需要高度怀疑指数。
