Types of variants in β-thalassemia.
Gene | Variant type | Effect |
---|---|---|
β-globin gene | Transcriptional variants | β+ or β++ |
Primary RNA transcript processing | β0, β+, or β++ | |
3’ UTR or poly-A site | β+ | |
Translation | ||
Initiation codon | β0 | |
Premature termination codon | β0 |
Abbreviation: UTR, untranslated region.