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.
Mol Med Rep. 2023 Jun;27(6). doi: 10.3892/mmr.2023.12999. Epub 2023 Apr 21.
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.
在本研究中，通过 gap-PCR、PCR-反向斑点杂交和多重连接依赖性探针扩增，鉴定了一名 15 岁女孩的α-地中海贫血缺失[-(东南亚)]和中国 γ(γδβ)/β-地中海贫血突变的复合杂合子。分子分析表明，先证者的父亲携带血红蛋白亚基β( )密码子 17 点突变(CD17; c.52A>T)，母亲为中国 γ(γδβ)-地中海贫血突变与-缺失的双重杂合子携带者，先证者从母亲和父亲那里同时遗传了这两种突变，因此携带中国 γ(γδβ)/β-地中海贫血与-缺失的复合杂合状态。该先证者被诊断为中间型地中海贫血，经历了从无明显临床症状到严重贫血和脾肿大、依赖每月输血的临床表型加重。
