Mikobi Tite Minga, Lukusa Prosper Tshilobo, Aloni Michel Ntetani, Lumaka Aimé, Akilimali Pierre Zalagile, Devriendt Koenraad, Matthijs Gert, Mbuyi Muamba Jean-Marie, Race Valerie
Center for Human Genetics, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo.
Department des Sciences de Bases, Laboratory of Biochemistry and Molecular Biology, Faculty of Medicine, University of Kinshasa, Kinshasa, Democratic Republic of Congo.
J Clin Lab Anal. 2018 Jan;32(1). doi: 10.1002/jcla.22186. Epub 2017 Mar 9.
Information about the association with alpha thalassemia in sickle cell patients is unknown in the Democratic Republic of Congo. There is very little data on the alpha thalassemia in patients suffering from sickle cell anemia in Central Africa, and their consequences on the clinical expression of the disease.
A cross-sectional study was conducted in 106 sickle cell patients living in the country's capital Kinshasa. The diagnosis of sickle cell anemia was confirmed with a molecular test using PCR-RFLP (restriction fragment length polymorphism) technique. The diagnosis of thalassemia was performed by the technique of multiplex ligation dependent probe amplification.
The mean age of our patients was 22.4±13.6 years. The α heterozygous deletion, the α homozygous deletion and the α triplication were respectively encountered in 23.6%, 25.5% , and 11.3% of patients. Patients with normal αα/αα genotype represented 39.6% of the study population. The average of severe vaso-occlusive crises, the rates of blood transfusions per year, the rate of osteonecrosis, cholelithiasis and leg ulcers were significantly lower in the group of patients with α homozygous deletion and α triplication.
The prevalence of α triplication was higher in sickle cell patients in the Democratic Republic of Congo than in worldwide series. The α triplication and α homozygous deletion were associated with less severe forms of the Sickle cell anemia in Congolese patients. These results showed the need to investigate systematically the alpha-globin gene mutations in sickle cell population in Central Africa.
在刚果民主共和国，镰状细胞病患者与α地中海贫血之间的关联尚不清楚。关于中非镰状细胞贫血患者的α地中海贫血及其对疾病临床表现影响的数据非常少。
对居住在该国首都金沙萨的106例镰状细胞病患者进行了一项横断面研究。使用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）技术通过分子检测确诊镰状细胞贫血。采用多重连接依赖探针扩增技术进行地中海贫血的诊断。
我们患者的平均年龄为22.4±13.6岁。α杂合缺失、α纯合缺失和α三倍体分别在23.6%、25.5%和11.3%的患者中出现。αα/αα基因型正常的患者占研究人群的39.6%。α纯合缺失和α三倍体患者组的严重血管闭塞性危机平均次数、每年输血率、骨坏死率、胆石症和腿部溃疡率显著较低。
刚果民主共和国镰状细胞病患者中α三倍体的患病率高于全球系列报道。α三倍体和α纯合缺失与刚果患者中较轻形式的镰状细胞贫血相关。这些结果表明有必要对中非镰状细胞人群中的α珠蛋白基因突变进行系统研究。
