Diagnostic Dilemma of Hemoglobinopathies Using High Performance Liquid Chromatography Alone: A Case Report from a...

Area of Science:

• Genetics
• Hematology

Background:

• Hemoglobinopathies, including thalassemia, are prevalent in India.
• High performance liquid chromatography (HPLC) is a widely used screening method for thalassemia detection.

Observation:

• This case highlights a scenario where HPLC alone was insufficient for accurate diagnosis.
• A common mutation, IVS-I-5 (G>C) in the HBB gene, was missed by HPLC screening.

Findings:

• Comprehensive diagnostic approaches, including family history, clinical examination, complete hemogram, HPLC, and molecular studies, are crucial for accurate thalassemia diagnosis.
• Limitations of HPLC in detecting certain common mutations underscore potential gaps in preconception screening.

Implications:

• The findings emphasize the necessity of integrating molecular testing with HPLC for robust thalassemia screening programs in India.
• Improved diagnostic strategies are vital to prevent missed diagnoses and ensure effective genetic counseling and management of hemoglobinopathies.