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.
Departments of *Pediatrics, Hematology/Oncology Section
‡Biostatistics, University of Puerto Rico School of Medicine, San Juan, Puerto Rico
Reprints: Maribel Torres-Serrant, MD, Department of Pediatrics, Hematology/Oncology Section, Centro Medico de Puerto Rico, University Pediatric Hospital, Building A Lab 223, San Juan, Puerto Rico 00936 (e-mail: firstname.lastname@example.org).
Received for publication November 28, 2009; accepted April 28, 2010
Research infrastructure partially supported by the RCMI (Research Centers in Minority Institutions) Program, UPR Medical Sciences Campus, grant number G12RR03051, and the Puerto Rico “Programa de Enfermedades Hereditarias” grant #370404.