Beta thalassemia syndromes: New insights

Table 1 Beta thalassemia variants

Type of β-globin gene variant		Subtype of β-globin gene variant	Beta-thalassemia severity type
Point mutations	Trancriptional variants	Promoter regulatory elements; 5’ untranslated regions	β+ or β++
	Variants involving RNA processing	Splice junction; consensus splice sites; cryptic splice sites; RNA cleavage - poly A signal; others in 3’ untranslated regions	β0, β+ or β++
	Variants involving RNA translation	Initiation codon; nonsense codons; frameshift	β0
Deletions			β0

Table 2 Available therapy for transfusion-dependent beta thalassemia

Treatment	Mode of action
Red blood cell transfusion	Correction of anemia
Deferoxamine	Iron chelation
Deferiprone
Deferasirox
Hematopoietic stem cell transplantation	Replacement with healthy hematopoietic stem cells
Luspatercept	Late-stage erythroid maturation
Exagamglogene autotemcel and lovotibeglogene autotemcel	Autologous genome-modifying/editing based therapy