Association of the CCR5A32 Mutant Genotype with Sickle Cell Disease in Egyptian Patients

摘要

Sickle cell disease is considered the most common single base mutation in the world, with >250,000 new patients being discovered each year. It consists of a wide spectrum of clinical presentations and complications. The CCR5A32 is the mutant genotype of C-C chemokine receptor 5 (CCR5). It is widely distributed due to several micro organisms that target macrophages in different populations. Theoretically, CCR5A32 confers an advantage to sickle cell disease patients. The chronic inflammatory response is the main pathogenesis in sickle cell disease, thus, the presence of the null CCR5A32 mutant genotype prevents the Thi-type immune response caused by the CCR5 chemokine receptor. This study aimed to define the true incidence of the CCR5A32 mutant genotype and to correlate its presence with the clinical and/or the radiological findings in sickle cell disease patients. We proposed decreased morbidity and prolonged survival of sickle cell disease patients carrying the CCR5A32 genotype. The study showed relatively the same prevalence (5.1%) of the CCR5A32 mutant genotype found in 500 sickle cell disease patients when compared to 1000 healthy controls (5.0%) with the same ethnic background. Despite the near prevalence of the incidence to controls, we suggest that CCR5A32 is relatively beneficial to sickle cell disease patients as polymorphic patients showed uncomplicated clinical presentation in contrast to other patients without the CCR5A32.