TY - JOUR AB - In the present study, an α‑thalassemia deletion [‑SEA (Southeast Asian)] and a compound heterozygote for the Chinese Gγ+(Aγδβ)0CD17‑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)0CD17‑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. AD - The Center for Medical Genetics and Molecular Diagnosis, Shenzhen Second People's Hospital/The First Affiliated Hospital of Shenzhen University Health Science Center, Shenzhen, Guangdong 518035, P.R. China The Center for Medical Genetics and Molecular Diagnosis, Shenzhen Second People's Hospital/The First Affiliated Hospital of Shenzhen University Health Science Center, Shenzhen, Guangdong 518035, P.R. China Prenatal Diagnosis Center, Shenzhen Second People's Hospital/The First Affiliated Hospital of Shenzhen University Health Science Center, Shenzhen, Guangdong 518035, P.R. China AU - Qian,Hou AU - Li,Weifeng AU - Lin,Xiuhua AU - Xu,Ji AU - Zhang,Xiaoli AU - Zhao,Weihua AU - Wu,Yike AU - Liu,Wenlan DA - 2023/06/01 DO - 10.3892/mmr.2023.12999 IS - 6 JO - Mol Med Rep KW - α‑thalassemia heterozygous mutation severe thalassemia intermedia Gγ+(Aγδβ)0‑thalassemia PY - 2023 SN - 1791-2997 1791-3004 SP - 112 ST - α‑thalassemia deletion [‑SEA (Southeast Asian)] and a compound heterozygote for the Chinese Gγ+(Aγδβ)0CD17‑thalassemia mutation: A case report T2 - Molecular Medicine Reports TI - α‑thalassemia deletion [‑SEA (Southeast Asian)] and a compound heterozygote for the Chinese Gγ+(Aγδβ)0CD17‑thalassemia mutation: A case report UR - https://doi.org/10.3892/mmr.2023.12999 VL - 27 ER -