Chinese J. Haemtol 18:514, 1996

The Effect of Hydroxyurea (HU) on the Expression of beta-thalassemia Allele IVS-2-654 C->T.

Huang Shuzhen, Yuehua Mao, Zeng Yitao

Shanghai Institute of Medical Genetics, Shanghai Children's Hospital, China.

This paper employed the two-phase liquid culture procedure for grown adult erythroid cells from two beta-thalassemia patients with IVS-2654 C->T allele, Coupled with micro-globin chain biosynthetic assay and RT-PCR globin mRNA quantitation method, to investigate the expressional changes of this splicing mutant gene under the treatment of low concentration (50u mol/L) of hydrocyurea (HU). The results showed that the levels of normally spliced beta-mRNA were significantly increased after HU treatment. Micro-globin chain biosynthesis of the cultured cells that gave an increase in beta-globin chain production. These results support our previous study on the clinical trial of HU to some beta-thalassemia patients, suggesting that HU may have a role in regulating globin gene expression by improving the splicing of IVS-2-654 C->T allele.