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

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

Hemoglobin. 2024 Apr 2:1-3. doi: 10.1080/03630269.2024.2328220. Online ahead of print.

ABSTRACT

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 molecular testing of positive newborn screening results to confirm the diagnosis and define risks for future pregnancies.

PMID:38565194 | DOI:10.1080/03630269.2024.2328220