--<sup>SEA</sup> (65.12%), -α<sup>3.7</sup> (19.05%), and -α<sup>4.2</sup> (8.05%) deletion were the main mutations of α-thalassemia, while IVS-II-654(C → T) (40.39%), CD41-42(-TCTT) (32.72%), -28(A → G) (10.11%), and CD17(A → T) (9.32%) mutations were the principal mutations of β-thalassemia in Meizhou.
Compound heterozygous with the typical β-thalassemia-CD41-42(-CTTT) mutation, the proband presented with microcytosis and hypochromic red cells, and required regulate transfusion.
The goal of this study was to establish a simple, quick and cost-effective screening assay by using modified dual priming oligonucleotide PCR for three most common mutations of β-thalassemia [CD71-72 (+A), CD 41-42 (-CTTT), Pnt.-28 (A → G)] in Southeast Asia and southern China.
In the Chinese, 2 beta-globin defects at CD 41/42 and IVS2-654 were responsible for 74% of beta-thalassemia. beta-mutations at CD 19, IVS1-1 (G-T), IVS1-5, poly A, and hemoglobin E caused 76% of the hemoglobin disorders in the Malays.
The results of the molecular characterization of more than 200 beta-thalassemia alleles showed that the most common types of beta-thalassemia mutations in China are CD 41/42 (-4 bp), IVS-II-nt.654 C-->T, CD 17 A-->T, CD 71/72 (+A) and -28 A-->G.