Detection of alpha-thalassemia-1 (Southeast Asian type) and its application for prenatal diagnosis

Clinical Genetics
Pranee WinichagoonY Fukumaki


A simple non-radioactive method based on the polymerase chain reaction was used to detect the Southeast Asian type of alpha-thalassemia 1 (--). Three oligonucleotide primers, one of which was adjacent to the breakpoint of the alpha-thalassemia-1 allele, were used to amplify the 570 and 194 bp DNA fragments. The 570 bp product was specific to the alpha-thalassemia-1 determinant and the 194 bp fragment was amplified from either the alpha-thalassemia-2 (-alpha) or normal alpha-globin (alpha alpha) determinants. In Hb Bart's hydrops fetalis (--/--), only the 570 bp fragment was obtained, whereas the 194 bp fragment was amplified in normal individual (alpha alpha/alpha alpha) and alpha-thalassemia-2 trait (-alpha/alpha alpha). Both 570 and 194 bp fragments were detected in alpha-thalassemia-1 trait (--/alpha alpha) and Hb H patients (--/-alpha). This procedure is useful for the rapid screening of alpha-thalassemia-1 trait and prenatal diagnosis of Hb Bart's hydrops fetalis in populations with a high frequency of the Southeast Asian Type of alpha-thalassemia-1.


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Dec 4, 2003·Clinical and Laboratory Haematology·S K SangkitpornS Sangkitporn
Mar 13, 2010·Prenatal Diagnosis·S SirichotiyakulT Sanguansermsri
Jun 29, 2010·Clinical Chemistry and Laboratory Medicine : CCLM·Sirinart ChomeanWanida Ittarat
Jul 1, 1997·Hemoglobin·Supan Fucharoen, Pranee Winichagoon
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Jan 17, 2002·Hemoglobin·Saovaros SvastiSupan Fucharoen
Sep 15, 2005·International Journal of Hematology·Pranee WinichagoonSuthat Fucharoen
Dec 13, 2006·Clinical Chemistry·Sherry Sze Yee HoMahesh Choolani

Related Concepts

DNA Sequence
Genetic Screening Method
Genetic Carriers
Antenatal Screening Procedures
Immune Hydrops Fetalis
Nested Case-Control Studies
Nested Polymerase Chain Reaction

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