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

Author(s)

Da Luz, J. ^[1] ; Lopez, P. ^[1] ; Kimura, E. M. ^[2] ; Albuquerque, D. M. ^[3] ; Costa, F. F. ^[3] ; Sans, M. ^[4] ; Sonati, M. F. ^[2]

Affiliation

^[1] Univ Republica, Dept Genet, Fac Med, Montevideo 11800 - Uruguay

^[2] Univ Estadual Campinas, Dept Patol Clin, Fac Ciencias Med, Sao Paulo - Brazil

^[3] Univ Estadual Campinas, Hemoctr, Fac Ciencias Med, Sao Paulo - Brazil

^[4] Univ Republica, Dept Antropol Biol, Fac Humanidades & Ciencias Educ, Montevideo - Uruguay

• Document type: Journal article
• Source: INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY; v. 35, n. 1, p. 111-114, FEB 2013.
• Web of Science Citations: 0

Abstract

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. (AU)

• FAPESP's process: 08/57441-0 - Clinical, cellular and molecular alterations in hemoglobinopathies and other hereditary hemolytic anemias
• Grantee: Fernando Ferreira Costa
• Support type: Research Projects - Thematic Grants