A new beta(0)-thalassemia frameshift mutation [beta 48 (-T)] in a Uruguayan family

作者：Da Luz J^*; Lopez P; Kimura E M; Albuquerque D M; Costa F F; Sans M; Sonati M F

来源：International Journal of Laboratory Hematology, 2013, 35(1): 111-114.

DOI：10.1111/j.1751-553X.2012.01462.x

• anemia
• genetics
• hemoglobinopathy
• thalassemia

We describe here a new frameshift mutation of beta-thalassemia in a Uruguayan family with Italian ancestry [beta 48 (-T); HBB:c.146delT]. This frameshift results in formation of premature stop codon (TGA) 40 bp downstream and in a short unstable product that is degraded in the cell.

• 出版日期2013-2