What is the US prevalence of Hermansky-Pudlak syndrome (HPS)?

Updated: Dec 13, 2019
  • Author: Jaclyn Scholtz, MD; Chief Editor: Dirk M Elston, MD  more...
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United States

Hermansky-Pudlak syndrome may be the most frequent single-gene disorder in Puerto Rico. Some have estimated a frequency of about 1 case in 2000 population among Puerto Ricans. Others state that, in Puerto Rico, Hermansky-Pudlak syndrome has a frequency of about 1 case in 1800 population, with an estimated carrier frequency of 1 in 21. Screening programs for Hermansky-Pudlak syndrome have been carried out in Puerto Rico because of the higher prevalence of the disorder in this population. [18]

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