Details

Autor(en) / Beteiligte

• Waye, John S
• Hanna, Meredith
• Hohenadel, Betty-Ann
• Nakamura, Lisa
• Walker, Lynda
• Eng, Barry
• Nfonsam, Landry E

Titel

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

Ist Teil von

• Hemoglobin, 2024-03, Vol.48 (2), p.113-115

Ort / Verlag

England

Erscheinungsjahr

2024

Quelle

MEDLINE

Beschreibungen/Notizen

• 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 γ( γδβ) -thal deletion and a novel frameshift mutation within exon 3 ( :c.336dup), and heterozygous for the Southeast Asian α-thal deletion (-- /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.