Validation of Microarray for the Simultaneous Detection of Common α- and β-Thalassemia Gene Mutations

Laboratory Medicine
Sakorn PornprasertPanida Pongpunyayuen

Abstract

Methods for detecting the complex genetic characteristics of α- and β-thalassemias are required for preventing and controlling the outbreak of new cases. We evaluated the accuracy and practical utility of microarray for simultaneous detection of α- and β-thalassemias. A total of 102 DNA specimens, which represented 25 different genotypes, were tested in parallel using the microarray and reference methods used in the thalassemia laboratory of the Associated Medical Sciences-Clinical Services Center (AMS-CSC), Chiang Mai, Thailand. A total of 100 (98.0%) DNA specimens were completely concordant between the microarray and reference methods, whereas discrepancies between the different methods were observed in only 2 DNA specimens with homozygous hemoglobin E (HbE). The microarray appeared to be a fast, easy to perform, and accurate method for simultaneous detection of α- and β-thalassemias in Thailand and Southeast Asian countries. However, this technique needs to be improved and validated in a larger number of specimens with homozygous HbE before further routine laboratory use.

References

Aug 25, 2004·International Journal of Gynaecology and Obstetrics : the Official Organ of the International Federation of Gynaecology and Obstetrics·Supatra SirichotiyakulTheera Tongsong
May 9, 2007·Clinical Chemistry and Laboratory Medicine : CCLM·Helene PuehringerChristian Oberkanins

Related Concepts

DNA
Hemoglobin E
Laboratory
Thalassemia
South East Asian
Gene Mutation
Alpha Tocopherol
Microarray Analysis
Detection
Validation

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