An asymptomatic infant of Ghanaian descent had hemoglobin F only detected on newborn screening. β-globin gene sequencing identified the intervening sequence (IVS)-II-849 (A→G) mutation with no normal β-globin gene. β-globin/δ-globin gene sequencing showed that both parents were heterozygous for the IVS-II-849 (A→G) mutation. The mother was heterozygous for the HbA2' δ-globin mutation (δ16 (A13) Gly→Arg), thus β-thalassemia trait was unrecognized due to coinheritance of HbA2'. The infant developed anemia, splenomegaly, and began transfusion therapy by the age 6 of months. This is the first report of β-thalassemia major with homozygous IVS-II-849 (A→G) mutations. This case highlights the importance of δ-globin gene mutations in prenatal testing.
- Fetal hemoglobin
- δ-globin mutations
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health