Compound Heterozygous Mutations in 2 Siblings with Hermansky-Pudlak Syndrome Type 1 (HPS1)

Abstract

Patients with oculocutaneous albinism should be investigated for increased clinical bleeding symptoms. In case of increased bleeding symptoms, analyses of primary hemostasis should be initiated to confirm HPS. Molecular genetic investigations should be performed to distinguish the different subtypes of HPS which is important for therapy and prognosis.