Liao Can, Feng Qiong, Li Jian, Huang Yining, Li Dongzhi
Prenatal Diagnostic Center, Guangzhou Maternal & Neonatal Hospital, Guangzhou Medical College, Guangzhou, Guangdong, People's Republic of China.
Hemoglobin. 2007;31(3):397-400. doi: 10.1080/03630260701459432.
We present the case of a child in whom beta-thalassemia (thal) major was apparently caused by homozygosity for a 4-base deletion mutation [codons 41/42 (-TTCT)] of the beta-globin gene. However, the mutation was not identified in the father. The presence of a deletional beta-thal was detected by long-range polymerase chain reaction (PCR). We emphasize that the mutations found in the patient should always be confirmed to be present in both parents before molecular analysis is employed for clinical purposes.
我们报告了一例儿童病例，其β地中海贫血（β-地贫）重型显然是由β珠蛋白基因的一个4碱基缺失突变[密码子41/42（-TTCT）]纯合所致。然而，在父亲中未检测到该突变。通过长程聚合酶链反应（PCR）检测到存在缺失型β-地贫。我们强调，在将分子分析用于临床目的之前，应始终确认患者中发现的突变在双亲中均存在。
