In the present study, an α‑thalassemia deletion [‑SEA (Southeast Asian)] and a compound heterozygote for the Chinese Gγ+(Aγδβ)0/βCD17‑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 β (HBB) heterozygous mutation in codon 17 (CD17; c.52A>T), the mother was a double heterozygous carrier of the Chinese Gγ+(Aγδβ)0‑thalassemia mutation combined with an ‑SEA deletion, and the proband inherited both mutations from her mother and father, thus carrying the Chinese Gγ+(Aγδβ)0/βCD17‑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.
Keywords: Gγ+(Aγδβ)0‑thalassemia; heterozygous mutation; severe thalassemia intermedia; α‑thalassemia.