Population Screening for Hemoglobinopathies.
| Title: | Population Screening for Hemoglobinopathies. |
|---|---|
| Authors: | Goonasekera HW; Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka; email: hemali@anat.cmb.ac.lk , paththinige@yahoo.com , vajira@anat.cmb.ac.lk.; Paththinige CS; Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka; email: hemali@anat.cmb.ac.lk , paththinige@yahoo.com , vajira@anat.cmb.ac.lk.; Faculty of Medicine and Allied Sciences, Rajarata University of Sri Lanka, Saliyapura, Sri Lanka.; Dissanayake VHW; Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka; email: hemali@anat.cmb.ac.lk , paththinige@yahoo.com , vajira@anat.cmb.ac.lk. |
| Source: | Annual review of genomics and human genetics [Annu Rev Genomics Hum Genet] 2018 Aug 31; Vol. 19, pp. 355-380. Date of Electronic Publication: 2018 May 11. |
| Publication Type: | Journal Article; Review |
| Language: | English |
| Journal Info: | Publisher: Annual Reviews Country of Publication: United States NLM ID: 100911346 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1545-293X (Electronic) Linking ISSN: 15278204 NLM ISO Abbreviation: Annu Rev Genomics Hum Genet Subsets: MEDLINE |
| Imprint Name(s): | Original Publication: Palo Alto, CA : Annual Reviews, c2000- |
| MeSH Terms: | Population Groups* ; Population Surveillance*; Hemoglobinopathies/*diagnosis; Hemoglobinopathies/epidemiology ; Child ; Female ; Humans ; Infant, Newborn ; Pregnancy |
| Abstract: | Hemoglobinopathies are the most common single-gene disorders in the world. Their prevalence is predicted to increase in the future, and low-income hemoglobinopathy-endemic regions need to manage most of the world's affected persons. International organizations, governments, and other stakeholders have initiated national or regional prevention programs in both endemic and nonendemic countries by performing population screening for α- and β-thalassemia, HbE disease, and sickle cell disease in neonates, adolescents, reproductive-age adults (preconceptionally or in the early antenatal period), and family members of diagnosed cases. The main aim of screening is to reduce the number of affected births and, in the case of sickle cell disease, reduce childhood morbidity and mortality. Screening strategies vary depending on the population group, but a few common screening test methods are universally used. We discuss the salient features of population-screening programs around the globe as well as current and proposed screening test methodologies. |
| Contributed Indexing: | Keywords: HbE disease; hemoglobinopathy screening; micromapping; sickle cell disease; α-thalassemia; β-thalassemia |
| Entry Date(s): | Date Created: 20180513 Date Completed: 20190624 Latest Revision: 20190624 |
| Update Code: | 20260130 |
| DOI: | 10.1146/annurev-genom-091416-035451 |
| PMID: | 29751732 |
| Database: | MEDLINE |
Journal Article; Review