Affiliations: *National Institute of Health, Department of Medical Sciences, Ministry of
Public Health, Nonthaburi, Thailand
Source: International Journal of Clinical Chemistry and Applied Molecular Biology
2005; 355: S166
The thalassemias and hemoglobinopathies are the most common inherited human diseases. Up to now more than 500 mutations concerning with thalassemias and hemoglobinopathies have been reported. In this study we have used fluorescence-based DNA sequence analysis coupled with advanced analysis software to rapid detection of alpha- and beta-globin gene mutations in Thai patients. 23 differents mutions of beta-globin gene and 4 different mutations of alpha-globin gene have been identified in 956 patients. Among these 23 beta-globin gene mutations, 12 of them (–31, -30, -28, codon 17, codon 19, codon 35, codon 43, codon 41-42, codon 71-72, IVS 1# 1, IVS 1# 5 and IVS 2 # 654) lead to beta-thalassemia and the others 11 mutations lead to abnormal Hb (Hb E, Hb C, Hb Tak, Hb Pyrgos, Hb S, Hb G Makassar, Hb Hope, Hb J-Bangkok, Hb Tacoma, Hb Korle-Bu and Hb Dhonburi). For 4 alpha-globin gene mutations, 2 of them lead to alpha-thalassemia 1 (SEA deletion and Thai deletion) and the others two mutations lead to abnormal Hb (Hb CS and Hb Q-Thailand). This fluorescence-based DNA sequence analysis is a rapid and reliable method for detection of point mutations and small deletions or insertions in both heterozygous and homozygous states. In conclusion this approach is particularly effective for identification of alpha- and beta-globin gene mutations that finally support the prevention and control of thalassemia in our country.