Clinical Hospital of Federal University Triângulo Mineiro, Functional Units Rom, Av. Getúlio Guaritá, 130, B. Nossa Senhora da Abadia, CEP 38.025-440, Uberaba, MG, Brazil.
Clinical Hospital of Federal University Triângulo Mineiro, Uberaba, MG, Brazil.
Adv Rheumatol. 2021 Feb 19;61(1):11. doi: 10.1186/s42358-021-00169-5.
Sickle cell disease (SCD) is an autosomal recessive genetic disease in which a mutation occurs in the β-globin chain gene, resulting in abnormal hemoglobin levels. In an environment with reduced oxygen concentration, red blood cells change their conformation, resulting in chronic hemolysis and consequent anemia and vaso-occlusive crises with injuries to several organs, with a significant impairment of the osteoarticular system. This study aimed to verify the chronic osteoarticular alterations and their association with clinical and laboratory characteristics of patients with SCD with a more severe phenotype (SS and Sβ), on a steady-state fasis.
Fifty-five patients were referred to a medical consultation with a specialized assessment of the locomotor system, followed by laboratory tests and radiographic examinations.
In total, 74.5% patients had hemoglobinopathy SS; 67.3% were female; and 78.2% were non-whites. The mean patient age was 30.5 years. Most patients (61.8%) reported up to three crises per year, with a predominance of high-intensity pain (65.5%). Radiographic alterations were present in 80% patients. A total of 140 lesions were identified, most which were located in the spine, femur, and shoulders. Most lesions were osteonecrosis and osteoarthritis and were statistically associated with the non-use of hydroxyurea.
There was a high prevalence of chronic osteoarticular alterations, which was statistically associated only with the non-regular use of hydroxyurea.
镰状细胞病（SCD）是一种常染色体隐性遗传病，β-珠蛋白链基因发生突变，导致血红蛋白水平异常。在氧浓度降低的环境中，红细胞改变其构象，导致慢性溶血，继而发生贫血和血管阻塞危象，导致多个器官损伤，骨关节炎系统受到严重损害。本研究旨在验证在稳定状态下，具有更严重表型（SS 和 Sβ）的 SCD 患者的慢性骨关节炎改变及其与临床和实验室特征的相关性。
55 名患者被转介到医疗咨询，进行专门的运动系统评估，随后进行实验室检查和影像学检查。
共有 74.5%的患者患有血红蛋白病 SS；67.3%为女性；78.2%是非白人。患者的平均年龄为 30.5 岁。大多数患者（61.8%）报告每年有多达三次危象，以高强度疼痛为主（65.5%）。80%的患者存在放射学改变。共发现 140 处病变，主要位于脊柱、股骨和肩部。大多数病变为骨坏死和骨关节炎，与未规律使用羟基脲有统计学关联。
慢性骨关节炎改变的发生率很高，仅与未规律使用羟基脲有统计学关联。
