Thalassemia screening: Difference between revisions
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===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.<ref name="pmid23378598">{{cite journal| author=Cao A, Kan YW| title=The prevention of thalassemia. | journal=Cold Spring Harb Perspect Med | year= 2013 | volume= 3 | issue= 2 | pages= a011775 | pmid=23378598 | doi=10.1101/cshperspect.a011775 | pmc=3552345 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23378598 }} </ref> 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== | ==References== | ||
Revision as of 01:03, 6 November 2017
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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.