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-β) pathway. Thus, we aimed to investigate polymorphisms (rs1805110 and rs7526590) of the transforming growth factor beta receptor III gene (TGFBR3) 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 TGFBR3 rs1805110 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 TGFBR3 rs7526590 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 TGFBR3 rs1805110 is associated with inflammation and bone alterations, while the minor allele (T) of TGFBR3 rs7526590 is related to hemolysis and the occurrence of leg ulcers.

中文翻译：

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TGFBR3多态性（rs1805110和rs7526590）与镰状细胞性贫血的实验室生物标志物和临床表现有关

镰状细胞性贫血（SCA）患者表现出慢性贫血，溶血，炎症反应加重和临床并发症，这些可能由转化生长因子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（TGFBR3）的多态性（rs1805110和rs7526590）与SCA患者的实验室生物标志物和临床表现有关。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的测定。TGFBR3 rs1805110的未成年人等位基因（A）多态性与血红蛋白，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，以及血小板分布宽度（PDW）降低和骨骼改变的发生有关。TGFBR3 rs7526590的次要等位基因（T）与红细胞分布宽度增加，PDW，碱性磷酸酶，天冬氨酸转氨酶，总胆红素和间接胆红素和乳酸脱氢酶水平升高，以及铁蛋白水平降低和下肢溃疡的发生有关。我们的数据表明，TGFBR3 rs1805110的次要等位基因（A）与炎症和骨骼改变有关，而TGFBR3 rs7526590的次要等位基因（T）与溶血和下肢溃疡的发生有关。