Thalassemia screening
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Screening
A screening policy exists on both sides of the island of Cyprus to reduce the incidence of thalassemia, which since the program's implementation in the 1970s (which also includes pre-natal screening and abortion) has reduced the number of children born with the hereditary blood disease from 1 out of every 158 births to almost zero.[1]
Methodology of Detection
- Polymerase chain reaction (PCR): The preferred method of thalassemia screening is PCR amplification of DNA from fetal trophoblastic tissue or amniotic fluid. Amniotic fluid is obtained from amniocentesis or from chorionic villus sampling.[2] If a newborn has the mutant globin chain within its germline DNA, PCR will amplify this DNA and will the mutation will be readily detectable.
- Hemoglobin electrophoresis: Analysis of globin gene products on gel electrophoresis can help make a diagnosis of thalassemia.
References
- ↑ Leung NT, Lau TK, Chung TKH (2005). "Thalassemia screening in pregnancy". Curr Opinion in Ob Gyn. 17: 129&ndash, 34.
- ↑ Cao A, Kan YW (2013). "The prevention of thalassemia". Cold Spring Harb Perspect Med. 3 (2): a011775. doi:10.1101/cshperspect.a011775. PMC 3552345. PMID 23378598.