The first report was a clinical study of two kindreds consisting of four affected individuals by Dr C Harrison in 2002 [20], while the second was a genetic study of an HPS-8 Pakistani-origin family with six affected individuals reported to have been caused by a novel biallelic mutation in BLOC1S3 (c.448delC) [21]. The gene discussed is BLOC1S3; the disease is Hermansky-Pudlak syndrome.