Vaz Alexandra, Capelo Joana, Martins Borges, Henriques Pedro
Serviço de Medicina I, Hospital S. Teotónio, Viseu.
Acta Med Port. 2011 May-Jun;24(3):467-74. Epub 2011 Aug 12.
Sickle cell disease is an inherited chronic haemolytic anaemia whose clinical manifestations arise from the tendency of the haemoglobin to polymerize and deform red blood cells into the characteristic sickle shape (HbS), with vaso-occlusive phenomena, pain and organ damage. Sickle cell anaemia, the prototype disease, is the homozygous state and represents the most severe form of sickle cell disease. A variety of other sickle cell syndromes are a result of an interaction between HbS and certain variant haemoglobins as HbC and thalassemia. We describe the case of a 28-year-old, black man, with recurrent episodes of musculoskeletal pain. Physical examination revealed spenomegaly. Laboratory tests showed haemolytic anemia and microcytosis. The peripheral blood smear revealed frequent target cells. The high performance liquid chromatography (HPLC) detected the absence of HbA, increased HbA2 and the presence of HbS and HbC, in equal amounts. In this case, we want to draw attention to less common and non-rheumatic causes of musculoskeletal pain as well as alert to the importance of early diagnosis of sickle cell disease that can minimize and prevent many of its complications.
镰状细胞病是一种遗传性慢性溶血性贫血，其临床表现源于血红蛋白聚合的倾向，导致红细胞变形为特征性的镰状（HbS），伴有血管阻塞现象、疼痛和器官损伤。镰状细胞贫血作为典型疾病，是纯合子状态，代表了镰状细胞病最严重的形式。多种其他镰状细胞综合征是HbS与某些变异血红蛋白（如HbC和地中海贫血）相互作用的结果。我们描述了一名28岁黑人男性的病例，他有反复发作的肌肉骨骼疼痛。体格检查发现脾肿大。实验室检查显示溶血性贫血和小红细胞症。外周血涂片显示有频繁的靶形细胞。高效液相色谱（HPLC）检测到HbA缺失、HbA2增加，且HbS和HbC含量相等。在这个病例中，我们想提醒人们注意肌肉骨骼疼痛的不常见且非风湿性病因，并警惕早期诊断镰状细胞病的重要性，这可以将其许多并发症降至最低并加以预防。
