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.
    • 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]

References

  1. Leung NT, Lau TK, Chung TKH (2005). "Thalassemia screening in pregnancy". Curr Opinion in Ob Gyn. 17: 129&ndash, 34.
  2. 2.0 2.1 2.2 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.

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