HBB mutations and HbA2 level: Escaping the carrier screening programs

Area of Science:

• Hematology
• Genetics

Background:

• Beta-thalassemia trait is a common inherited blood disorder.
• Accurate diagnosis is essential for genetic counseling and management.

Observation:

• Hemoglobin A2 (HbA2) levels are a primary screening tool for beta-thalassemia trait.
• Iron deficiency can affect HbA2 levels, potentially complicating diagnosis.

Findings:

• HbA2 levels alone may not be sufficiently accurate or reliable for diagnosing beta-thalassemia trait, even in the absence of iron deficiency.
• Molecular genetic testing offers a more definitive diagnostic approach.

Implications:

• Relying solely on HbA2 levels can lead to misdiagnosis or delayed diagnosis of beta-thalassemia trait.
• Molecular genetic testing should be considered for individuals where HbA2 levels are equivocal or when a definitive diagnosis is required.
• Improved diagnostic strategies can enhance patient management and family planning for those affected by beta-thalassemia trait.