Abstract
A novel β0-thalassemia (β-thal) frameshift mutation, HBB: c.209delG; p.Gly70Valfs*20, is described in a 21-year-old African American female with β-thalassemia major (β-TM) due to compound heterozygosity for the β0-thal mutation HBB: c.92+2T>C [formerly known as IVS-I-2 (T>C)] and HBB: c.209delG. The combination of these mutations demonstrates a complete lack of β-globin chain synthesis, evidenced by the proband having no Hb A present.
Original language | English (US) |
---|---|
Pages (from-to) | 292-294 |
Number of pages | 3 |
Journal | Hemoglobin |
Volume | 38 |
Issue number | 4 |
DOIs | |
State | Published - 2014 |
Keywords
- Frameshift mutation
- Truncating mutation
- β-Thalassemia major (β-TM)
ASJC Scopus subject areas
- Hematology
- Clinical Biochemistry
- Genetics(clinical)
- Biochemistry, medical