The β-goblin gene architecture in individuals with and without sickle cell disease in Nigeria: Implications for β-thalassaemia trait diagnosis

Key Points

• Molecular confirmation shows a low prevalence of β-thalassaemia trait in Yoruba individuals, emphasizing the need for accurate tests.
• Two rare variants were identified, including a β-thalassaemia mutation on a minor haplotype, adding to genetic diversity knowledge.
• Limitations of high-performance liquid chromatography for diagnosing β-thalassaemia are underscored, indicating a reliance on genetic testing.
• Genetic testing may enable more accurate diagnosis and management of β-thalassaemia trait in populations with sickle cell disease.