α‑thalassemia deletion [‑ (Southeast Asian)] and a compound heterozygote for the Chinese γ(γδβ)/β‑thalassemia mutation: A case report.

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