To investigate polymorphism of the CR1 gene in Chinese patients with PNH and its correlation with clinical features and the potential impact on eculizumab efficiency, we genotyped CR1 rs2274567, rs3811381 and the intron 27 Hind III restriction fragment length polymorphism in 95patients with PNH and 96 controls.
Polymorphism of the complement receptor 1 gene correlates with the hematologic response to eculizumab in patients with paroxysmal nocturnal hemoglobinuria.
In contrast, specific immune precipitates of PNH-E from three patients show C3bR but are deficient in DAF; type II PNH-E are relatively deficient and type III PNH-E are totally deficient in DAF.