Service de Médecine Interne, Hôpital Tenon, AP-HP, Paris.
Haematologica. 2012 Aug;97(8):1136-41. doi: 10.3324/haematol.2011.055202. Epub 2012 Feb 7.
Hemoglobin sickle cell disease is one of the most frequent hemoglobinopathies. Surprisingly, few studies have been dedicated to this disease, currently considered to be a mild variant of homozygous sickle cell disease. The aim of this study was to update our knowledge about hemoglobin sickle cell disease.
The study involved a single center series of 179 patients. Clinical and biological data were collected with special attention to the assessment of pulmonary arterial hypertension and nephropathy.
Hemoglobin sickle cell diagnosis was delayed and performed in adulthood in 29% of cases. Prevalence of hospitalized painful vasoocclusive crisis, acute chest syndrome and priapism was 36%, 20% and 20%, respectively. The most common chronic organ complications were retinopathy and sensorineural otological disorders in 70% and 29% of cases. Indeed, prevalence of complications reported in homozygous sickle cell disease, such as nephropathy, suspicion of pulmonary hypertension, strokes and leg ulcers was rather low (13%, 4% and 1%, respectively). Phlebotomy performed in 36% of this population (baseline hemoglobin 11.5 g/dL) prevented recurrence of acute events in 71% of cases.
Our data suggest that hemoglobin sickle cell disease should not be considered as a mild form of sickle cell anemia but as a separate disease with a special emphasis on viscosity-associated otological and ophthalmological disorders, and with a low prevalence of vasculopathy (strokes, pulmonary hypertension, ulcers and nephropathy). Phlebotomy was useful in reducing acute events and a wider use of this procedure should be further investigated.
血红蛋白镰状细胞病是最常见的血红蛋白病之一。令人惊讶的是，目前这种疾病被认为是纯合镰状细胞病的轻度变异，很少有研究专门针对这种疾病。本研究旨在更新我们对血红蛋白镰状细胞病的认识。
该研究涉及一个单中心的 179 例患者系列。收集了临床和生物学数据，特别关注肺动脉高压和肾病的评估。
血红蛋白镰状细胞病的诊断在 29%的病例中延迟到成年期。住院疼痛性血管阻塞性危象、急性胸部综合征和阴茎异常勃起的发生率分别为 36%、20%和 20%。最常见的慢性器官并发症是视网膜病变和感觉神经性听觉障碍，分别为 70%和 29%。事实上，报告的镰状细胞病的并发症（如肾病、肺动脉高压、中风和腿部溃疡）的发生率相当低（分别为 13%、4%和 1%）。在该人群中（基线血红蛋白 11.5g/dL）有 36%的人进行了放血治疗，71%的人可以预防急性事件的复发。
我们的数据表明，血红蛋白镰状细胞病不应被视为镰状细胞贫血的轻度形式，而应被视为一种单独的疾病，特别强调与粘度相关的听觉和眼部疾病，血管病变（中风、肺动脉高压、溃疡和肾病）的发生率较低。放血治疗有助于减少急性事件，应进一步研究更广泛地使用这种方法。
