Newborn Screening for β-Thalassemia Identifies a Complex Genotype Involving a Novel β-Globin Gene Mutation (HBB:c.336dup).

Abstract excerpt

Newborn screening identified a Chinese-Canadian infant who was positive for possible β-thalassemia (β-thal). Detailed family studies demonstrated that the proband was a compound heterozygote for the Chinese Gγ(Aγδβ)0-thal deletion and a novel frameshift mutation within exon 3 (HBB:c.336dup), and heterozygous for the Southeast Asian α-thal deletion (--SEA/αα). This case illustrates the importance of follow-up...

Topics

• Female
• Humans
• Infant, Newborn
• Male
• beta-Globins
• beta-Thalassemia
• Frameshift Mutation
• Genotype
• Heterozygote
• Mutation
• Neonatal Screening