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

Imagen de Carmen Lydia Cadilla
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TítuloNewborn screening for hermansky-pudlak syndrome type 3 in Puerto Rico.
Publication TypeJournal Article
Year of Publication2010
AutoresTorres-Serrant, M, Ramirez, SI, Cadilla, C, Ramos-Valencia, G, Santiago-Borrero, PJ
JournalJ Pediatr Hematol Oncol
Volume32
Issue6
Pagination448-53
Date Published2010 Aug
ISSN1536-3678
Palabras claveGene Frequency, Genetic Testing, Hermanski-Pudlak Syndrome, Heterozygote, Humans, Infant, Newborn, Neonatal Screening, Polymerase Chain Reaction, Prevalence, Puerto Rico
Abstract

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.

DOI10.1097/MPH.0b013e3181e5e1f1
Alternate JournalJ. Pediatr. Hematol. Oncol.
PubMed ID20562649
PubMed Central IDPMC3640623
Grant ListG12 RR003051 / RR / NCRR NIH HHS / United States
G12RR03051 / RR / NCRR NIH HHS / United States
S06 GM008224 / GM / NIGMS NIH HHS / United States