what is hps disease
What is HPS? Hermansky-Pudlak Syndrome (HPS) is a genetic metabolic disorder which causes albinism, visual impairment, and a platelet dysfunction with prolonged bleeding. In some genetic types of HPS there is a lysosomal accumulation of ceriod lipofusion. In other words, there is accumulation in the cells of a substance presently known as âceriodâ. Ceroid is the name given to this substance because it means âwax likeâ.