Thalassemia screening: Difference between revisions
Jump to navigation
Jump to search
Shyam Patel (talk | contribs) |
Shyam Patel (talk | contribs) |
||
| Line 17: | Line 17: | ||
===Methodology of Detection=== | ===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. | *'''[[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. | ||
**''Risks'': There is a risk for false negative testing, in which a patient truly has thalassemia but no mutant PCR product is amplified. Maternal DNA contamination can also a false negative test result. In order to bypass the possibility of false negatives, multiple confirmatory tests can be done, including the amplification refractory mutation system and reverse oligonucleotide hybridization. | **''Risks'': There is a risk for false negative testing, in which a patient truly has thalassemia but no mutant PCR product is amplified. Maternal DNA contamination can also a false negative test result. In order to bypass the possibility of false negatives, multiple confirmatory tests can be done, including the amplification refractory mutation system and reverse oligonucleotide hybridization.<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> | ||
**''Benefits'': The advantages of PCR are the high sensitivity and low cost of the test. | **''Benefits'': The advantages of PCR are the high sensitivity and low cost of the test. | ||
*'''[[Hemoglobin electrophoresis]]''': Analysis of globin gene products on gel electrophoresis can help make a diagnosis of thalassemia. | *'''[[Hemoglobin electrophoresis]]''': Analysis of globin gene products on gel electrophoresis can help make a diagnosis of thalassemia.<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> | ||
==References== | ==References== | ||
Revision as of 01:10, 6 November 2017
|
Thalassemia Microchapters |
|
Diagnosis |
|---|
|
Treatment |
|
Case Studies |
|
Thalassemia screening On the Web |
|
American Roentgen Ray Society Images of Thalassemia screening |
Please help WikiDoc by adding more content here. It's easy! Click here to learn about editing.
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.
- Risks: There is a risk for false negative testing, in which a patient truly has thalassemia but no mutant PCR product is amplified. Maternal DNA contamination can also a false negative test result. In order to bypass the possibility of false negatives, multiple confirmatory tests can be done, including the amplification refractory mutation system and reverse oligonucleotide hybridization.[2]
- Benefits: The advantages of PCR are the high sensitivity and low cost of the test.
- Hemoglobin electrophoresis: Analysis of globin gene products on gel electrophoresis can help make a diagnosis of thalassemia.[2]