Laboratório de Investigação em Genética e Hematologia Translacional, Instituto Gonçalo Moniz, FIOCRUZ-BA, Salvador 40296-710, Brazil.
Universidade Federal da Bahia, UFBA, Salvador 40170-110, Brazil.
Dis Markers. 2020 Sep 30;2020:8867986. doi: 10.1155/2020/8867986. eCollection 2020.
Individuals with sickle cell anemia (SCA) present chronic anemia, hemolysis, an exacerbated inflammatory response, and heterogeneous clinical complications, which may be modulated by the transforming growth factor beta (TGF-) pathway. Thus, we aimed to investigate polymorphisms ( and ) of the transforming growth factor beta receptor III gene () with regard to laboratory biomarkers and clinical manifestations in individuals with SCA. Hematological, biochemical, immunological, and genetic analyses were carried out, as well as serum endothelin-1 measurements. The minor allele (A) of the polymorphism was associated with increased hemoglobin, hematocrit, reticulocyte counts, total cholesterol, low-density lipoprotein, uric acid, and endothelin levels, as well as decreased platelet distribution width (PDW) and the occurrence of bone alterations. The minor allele (T) of was associated with increased red cell distribution width, PDW, alkaline phosphatase, aspartate aminotransferase, total and indirect bilirubin, and lactate dehydrogenase levels, as well as lower ferritin levels and the occurrence of leg ulcers. Our data suggest that the minor allele (A) of is associated with inflammation and bone alterations, while the minor allele (T) of is related to hemolysis and the occurrence of leg ulcers.
患有镰状细胞贫血症 (SCA) 的个体表现为慢性贫血、溶血、炎症反应加剧和异质性临床并发症，这些可能受转化生长因子 β (TGF-β) 途径调节。因此，我们旨在研究转化生长因子β受体 III 基因 () 的多态性 (和) 与 SCA 个体的实验室生物标志物和临床表现的关系。进行了血液学、生化、免疫学和遗传学分析，以及血清内皮素-1 测量。多态性的次要等位基因 (A) 与血红蛋白、血细胞比容、网织红细胞计数、总胆固醇、低密度脂蛋白、尿酸和内皮素水平升高有关，血小板分布宽度 (PDW) 和骨骼改变减少有关。多态性的次要等位基因 (T) 与红细胞分布宽度、PDW、碱性磷酸酶、天冬氨酸转氨酶、总胆红素和间接胆红素以及乳酸脱氢酶水平升高有关，铁蛋白水平降低和腿部溃疡的发生有关。我们的数据表明，的次要等位基因 (A) 与炎症和骨骼改变有关，而 的次要等位基因 (T) 与溶血和腿部溃疡的发生有关。
