The clinical significance of the spectrum of interactions of the rare ivs-ii-5 g > c (hbb: c.315+5 g > c) variation with other Β-thalassemia mutations in southern china

Conclusion:Compound heterozygotes for IVS-II-5 G>C and other severe β-thalassemia mutations are phenotypically severe enough to necessitate appropriate therapy and counseling. Co-inheritance of this nucleotide substitution with other β-thalassemia mutations may account for a considerable portion of the incidence of undiagnosed patients with TI and TM in Guangxi. T he IVS-II-5 G>C mutation can pose serious difficulties in screening and counseling.Keywords: β-thalassemia; IVS-II-5 G>C; genotype; phenotype
Source: Mediterranean Journal of Hematology and Infectious Diseases - Category: Hematology Authors: Source Type: research