Newborn screening for hermansky-pudlak syndrome type 3 in Puerto Rico

J Pediatr Hematol Oncol. 2010 Aug;32(6):448-53. doi: 10.1097/MPH.0b013e3181e5e1f1.


Background: Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by albinism, mucocutaneous bleeding, and storage of ceroid material in macrophages. Patients who are not easily identified by physical characteristics (mostly HPS-3 patients) may have hemorrhagic complications with trauma or surgery.

Objective: To determine the prevalence of HPS-3 in Puerto Rican newborns using DNA pooling technique.

Design/methods: Twelve percent of annual Puerto Rican births were tested randomly by polymerase chain reaction for the HPS-3 mutation, using pooled DNA extracted from dried blood samples.

Results: HPS-3 mutation was detected in 75 samples. Two newborns were found to be homozygous. Carrier frequency was 1:85 (1.18%).

Conclusions: The HPS-3 carrier frequency found (1.18%) justifies universal newborn screening in Puerto Rico. DNA pooling reduces time and labor in newborn screening thus facilitating early diagnosis and treatment of children with HPS-3 and the provision of genetic counseling to parents and relatives.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Gene Frequency
  • Genetic Testing
  • Hermanski-Pudlak Syndrome / epidemiology*
  • Hermanski-Pudlak Syndrome / genetics*
  • Heterozygote
  • Humans
  • Infant, Newborn
  • Neonatal Screening*
  • Polymerase Chain Reaction
  • Prevalence
  • Puerto Rico / epidemiology