TY - JOUR
AB - 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.
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)0/βCD17‑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)0/βCD17‑thalassemia mutation: A case report
UR - https://doi.org/10.3892/mmr.2023.12999
VL - 27
ER -