Farawela Hala M, El-Ghamrawy Mona, Farhan Marwa Salah, Soliman Rania, Yousry Sherif M, AbdelRahman Hala A
a Clinical Pathology Department, Faculty of Medicine , Cairo University , Egypt.
b Department of Pediatrics , New Children Hospital, Cairo University , 11221 , Egypt.
Hematology. 2016 Sep;21(8):474-9. doi: 10.1080/10245332.2015.1111643. Epub 2016 Mar 4.
Sickle cell disease (SCD) is associated with a pro-inflammatory state, characterized by an elevated baseline leukocyte count and inflammatory cytokines. Inflammation, white blood cell (WBC) adhesion to vascular endothelium with subsequent endothelial injury, and repeated ischemia-reperfusion injury contribute to disease pathogenesis. Identification of genetic polymorphisms that may modulate disease severity in SCD is becoming a field of interest. The Duffy blood group antigen has been identified as a receptor for various chemokines involved in neutrophil activation and trafficking. This study aimed at investigating the effect of RBCs' Duffy antigen expression and its genetic polymorphisms on modulating disease severity and its complications among Egyptian sickle cell patients. Methods We analyzed the association of Duffy genotypes and phenotypes with clinical expression of SCD in 100 Egyptian patients. The Duffy phenotype expression was detected by indirect anti-globulin test while Duffy genotyping was conducted with polymerase chain reaction-restriction fragment length polymorphism-based assay. Results Total WBC count was strongly associated with Duffy genotype. WBCs were significantly higher in Duffy-positive patients (P = 0.002). No statistical significance was evident between individual measures of disease severity (pulmonary dysfunction, avascular necrosis, central nervous system dysfunction, kidney dysfunction, and leg ulcers) and Duffy genotype. Conclusion Our study suggests that RBC Duffy expression increases levels of WBCs in SCD patients and that Duffy genotype may not be a potential biomarker for end-organ damage in SCD.
镰状细胞病（SCD）与促炎状态相关，其特征为基线白细胞计数和炎性细胞因子升高。炎症、白细胞（WBC）黏附于血管内皮并随后导致内皮损伤，以及反复的缺血再灌注损伤均参与疾病的发病机制。鉴定可能调节SCD疾病严重程度的基因多态性正成为一个备受关注的领域。达菲血型抗原已被确定为参与中性粒细胞活化和转运的多种趋化因子的受体。本研究旨在调查红细胞达菲抗原表达及其基因多态性对埃及镰状细胞病患者疾病严重程度及其并发症的调节作用。方法 我们分析了100例埃及患者中达菲基因型和表型与SCD临床表型的相关性。通过间接抗球蛋白试验检测达菲表型表达，同时采用基于聚合酶链反应-限制性片段长度多态性的检测方法进行达菲基因分型。结果 白细胞总数与达菲基因型密切相关。达菲阳性患者的白细胞显著更高（P = 0.002）。疾病严重程度的各项指标（肺功能障碍、无菌性坏死、中枢神经系统功能障碍、肾功能障碍和腿部溃疡）与达菲基因型之间无明显统计学意义。结论 我们的研究表明，红细胞达菲表达会增加SCD患者的白细胞水平，并且达菲基因型可能不是SCD终末器官损伤的潜在生物标志物。
