Diop S, Thiam D, Cisse M, Toure-Fall A O, Fall K, Diakhate L
Service d'Hématologie et d'Immunologie, CNTS, Dakar-Fann Senegal.
Hematol Cell Ther. 1999 Nov;41(5):217-21. doi: 10.1007/s00282-999-0217-1.
Despite the unicity of its genetic mutation, Sickle cell homozygosity presents different clinical features. Our objectives were to evaluate disease severity in Senegalese patients. Sixty (60) homozygous sickle cell patients were followed up monthly during one year and disease severity was assessed using the "severity index" (SI) which is resulting from epidemiologic, clinic and biological data. Mean age was 20.13, sex ratio was 0.87 and mean age of diagnosis was 9.8 years. 90% of patients presented vaso-occlusive crisis (2.53 per patient), 73.3% had infectious episodes (1.9 per patient), 69.3% had never been transfused and 25% of patients had presented chronic complications linked to anemia or ischemia. Mean hemoglobin value was 8.1 g/dl and mean Hb F was 8.2%. Low seric ferritin was found in 1.7% of patients. Benign form of homozygous sickle cell anemia (SI< or =6) was found in 48.3% of patients. Our data confirm the relative good tolerance of homozygous sickle cell disease in Senegal. The haplotype Senegal may play an important role but others host and environmental factors operate certainly because some severe cases were identified in our patients. The identification of all these factors might contribute to a better follow up of sickle cell disease.
尽管镰状细胞纯合子的基因突变具有独特性，但它呈现出不同的临床特征。我们的目标是评估塞内加尔患者的疾病严重程度。60例镰状细胞纯合子患者在一年中每月接受随访，并使用由流行病学、临床和生物学数据得出的“严重程度指数”（SI）评估疾病严重程度。平均年龄为20.13岁，性别比为0.87，平均诊断年龄为9.8岁。90%的患者出现血管闭塞性危机（每位患者2.53次），73.3%的患者有感染发作（每位患者1.9次），69.3%的患者从未接受过输血，25%的患者出现与贫血或缺血相关的慢性并发症。平均血红蛋白值为8.1 g/dl，平均胎儿血红蛋白（Hb F）为8.2%。1.7%的患者血清铁蛋白水平较低。48.3%的患者为良性形式的镰状细胞纯合子贫血（SI≤6）。我们的数据证实了塞内加尔镰状细胞纯合子疾病相对良好的耐受性。塞内加尔单倍型可能起重要作用，但其他宿主和环境因素肯定也有影响，因为我们的患者中发现了一些重症病例。识别所有这些因素可能有助于更好地对镰状细胞疾病进行随访。
