title: Rapid confirmation of Southeast Asian and Filipino alpha-thalassemia genotypes from newborn screening specimens.
abstract: Alpha(+)-thalassemia (-alpha) is prevalent throughout tropical and subtropical regions of world, whereas alpha(0)-thalassemia (--) occurs at higher frequency in Southeast Asia. Homozygosity for the alpha(0)-thalassemia deletion (--/--) is a serious health problem in Southeast Asia and the Philippines and is responsible for the majority of hydrops fetalis in this region. Asian immigration in United States has impacted the demography of genetic disease in U.S. As Asians comprise of 10% of all California births and represent a population at highest risk for alpha(0)-thalassemia, we developed a rapid and efficient PCR approach to detect the common alpha(0)-thalassemia deletions in Southeast Asians and Filipinos using newborn screening specimen.
authors.affiliation: Department of Pediatrics, UCLA School of Medicine, Los Angeles, California 90095-1752, USA.
authors.forename: Urvashi
authors.initials: U
authors.lastname: Bhardwaj
authors.forename: Yao-Hua
authors.initials: YH
authors.lastname: Zhang
authors.forename: William
authors.initials: W
authors.lastname: Blackburn
authors.forename: Linda L
authors.initials: LL
authors.lastname: McCabe
authors.forename: Edward R B
authors.initials: ER
authors.lastname: McCabe
mesh_terms: D001210:Asia, Southeastern / Q000208:ethnology; D001213:Asian; D002140:California / Q000453:epidemiology; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics; D005787:Gene Frequency; D005838:Genotype; D005914:Globins / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening / Q000379:methods*; D010679:Philippines / Q000208:ethnology; D016133:Polymerase Chain Reaction / Q000379:methods*; D017384:Sequence Deletion; D017085:alpha-Thalassemia / Q000097:blood / Q000208:ethnology / Q000235:genetics*
chemical_list: D005914:Globins