Molecular Analysis of Common Types ofﾎｱ-Thalassemia Associated with(ﾎｲ-Thalassemia in Northern Thailand

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We applied PCR strategies to detect the common types of ﾎｱ- thalassemia determinants which were associated with ﾎｲ- thalassemia in northern Thailand. Two types of deletions in the ﾎｱ-globin gene locus;the 18 kb deletion of Southeast Asian type(-ﾎｱSEA)and the 3.7 kb rightward deletion(-ﾎｱ3.7), and the most prevalent non-deletion mutation, Hb Constant Spring(ﾎｱC8, TAA to CAA at the codon 141)were investigated in 22 cases of ﾎｲ-thalassemia. Nine ﾎｲ-thalassemia patients were found to be associated with one or two of these defective ﾎｱ-globin gene determinants and the mean hemoglobin concentration in these patients was 6.3 ﾂｱ 1.1 g/dl whereas it was 5.6ﾂｱ.0.8 g/dl in 12 ﾎｲ-thalassemia patients without ﾎｱ- globin gene abnormalities ; the difference is statistically insignificant (p = 0.08). The level of anemia was severe in the ﾎｲ-thalassemia patients carrying a single ﾎｱ-globin gene abnormality in the heterozygous compounds ; whereas the (ﾎｲ-thalassemias withﾎｱ-globin gene defects in both alleles showed less severe anemia. A patient carrying the ﾎｱ・｣8 determinant in homozygous compound showed the highest hemoglobin level among these ﾎｲ-thalassemia patients.
長崎大学の論文