Newborn screening for hermansky-pudlak syndrome type 3 in Puerto Rico.
Enviado por Carmen Lydia Cadilla el
Título | Newborn screening for hermansky-pudlak syndrome type 3 in Puerto Rico. |
Publication Type | Journal Article |
Year of Publication | 2010 |
Autores | Torres-Serrant, M, Ramirez, SI, Cadilla, C, Ramos-Valencia, G, Santiago-Borrero, PJ |
Journal | J Pediatr Hematol Oncol |
Volume | 32 |
Issue | 6 |
Pagination | 448-53 |
Date Published | 2010 Aug |
ISSN | 1536-3678 |
Palabras clave | Gene 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. |
DOI | 10.1097/MPH.0b013e3181e5e1f1 |
Alternate Journal | J. Pediatr. Hematol. Oncol. |
PubMed ID | 20562649 |
PubMed Central ID | PMC3640623 |
Grant List | G12 RR003051 / RR / NCRR NIH HHS / United States G12RR03051 / RR / NCRR NIH HHS / United States S06 GM008224 / GM / NIGMS NIH HHS / United States |