A double heterozygote for (delta beta)(0)-thalassemia and codons 41/42 (-TTCT) behaves as a homozygote for the frameshift mutation in a Chinese family

作者：Liao, Can; Feng, Qiong; Li, Jian; Huang, Yining; Li, Dongzhi^*

来源：Hemoglobin, 2007, 31(3): 397-400.

DOI：10.1080/03630260701459432

• deletional type
• beta-thalassemia (thal)
• polymerase chain reaction (PCR)
• reverse dot-blot

We present the case of a child in whom beta-thalassemia (thal) major was apparently caused by homozyg-osity 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.

• 出版日期2007
• 单位广州市妇女儿童医疗中心; 广州医科大学