Thalassemia screening: Difference between revisions
Jump to navigation
Jump to search
Shyam Patel (talk | contribs) No edit summary |
Shyam Patel (talk | contribs) |
||
| Line 9: | Line 9: | ||
==Screening== | ==Screening== | ||
Premarital screening is employed in countries that are endemic to thalassemia. In countries where screening is done, this can be an effective way to avoid the birth of children with thalassmia.PMC4960032A However, certain countries with high prevalence of thalassemia do not incorporate screening methods due to a variety of reasons (below).PMC4960032 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.<ref>{{cite journal | author=Leung NT, Lau TK, Chung TKH | title=Thalassemia screening in pregnancy | |||
| journal=Curr Opinion in Ob Gyn | | journal=Curr Opinion in Ob Gyn | ||
| year=2005 | | year=2005 | ||
| Line 20: | Line 20: | ||
**''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.<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> | *'''[[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> | ||
===Barriers to Effective Screening=== | |||
*Costs of screening | |||
*Lack of awareness of availability screening | |||
*Unwillingness to participate in screening | |||
*Lack of concern about thalassemia | |||
==References== | ==References== | ||
Revision as of 05:45, 20 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] Shyam Patel [2]
Overview
Screening
Premarital screening is employed in countries that are endemic to thalassemia. In countries where screening is done, this can be an effective way to avoid the birth of children with thalassmia.PMC4960032A However, certain countries with high prevalence of thalassemia do not incorporate screening methods due to a variety of reasons (below).PMC4960032 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]
Barriers to Effective Screening
- Costs of screening
- Lack of awareness of availability screening
- Unwillingness to participate in screening
- Lack of concern about thalassemia