-thalassemia deletion [-^SEA (Southeast Asian)] and a compound heterozygote for the Chinese ^G+(^AæĦ)0/^CD17-thalassemia mutation: A case report

In the present study, an alpha-thalassemia deletion [-(SEA) (Southeast Asian)] and a compound heterozygote for the Chinese (G)gamma(+)((A)gamma delta beta)(0)/beta(CD17)-thalassemia mutation in a 15-year-old girl was identified by gap-PCR, PCR-reverse dot-blot hybridization and multiplex ligation-dependent probe amplification. Molecular analysis indicated that the proband's father carried a hemoglobin subunit beta (HBB) heterozygous mutation in codon 17 (CD17; c.52A>T), the mother was a double heterozygous carrier of the Chinese (G)gamma(+)((A)gamma delta beta)(0)-thalassemia mutation combined with an -(SEA) deletion, and the proband inherited both mutations from her mother and father, thus carrying the Chinese (G)gamma(+)((A)gamma delta beta)(0)/beta(CD17)-thalassemia combined with the-(SEA) deletion in a compound heterozygous state. The proband was diagnosed as severe thalassemia intermedia and experienced a clinical phenotype aggravation (severe anemia and splenomegaly) from no obvious clinical symptoms to being dependent on monthly blood transfusions.