Hemoglobin e syndromes: emerging diagnostic challenge in north India

Area of Science:

• Hematology
• Medical Diagnostics
• Genetics

Background:

• Hemoglobin E (HbE) is a prevalent mutation globally, presenting in various genotypes (AE, EE, compound heterozygous).
• Accurate diagnosis of HbE disorders is crucial due to significant clinical variations among genotypes.
• Distinguishing HbE disorders from other anemias presents diagnostic challenges.

Purpose of the Study:

• To investigate if Red Blood Cell (RBC) indices from automated cell counters can aid in diagnosing HbE disease.
• To explore correlations between RBC indices and specific hemoglobinopathy markers.

Main Methods:

• Study conducted at PGIMER, Dr. Ram Manohar Lohia Hospital, New Delhi.
• Included antenatal females and patients suspected of hemoglobinopathies.
• High-Performance Liquid Chromatography (HPLC) used for confirmatory diagnosis.
• Statistical analysis performed to correlate HbA2, HbF levels with RBC indices (MCV, MCH, RDW).

Main Results:

• Identified 20 cases: 3 homozygous HbE, 12 HbE trait, 5 Eβ-thalassemia.
• Negative correlation observed between HbA2/E peak values and MCV/MCH.
• Positive correlation found between HbA2/E and RDW.
• Positive correlation noted between HbF values and MCV.

Conclusions:

• The positive correlation between HbA2/E and RDW may assist in differentiating HbE/β-thalassemia from β-thalassemia.
• Increased RDW in microcytic hypochromic anemia warrants consideration of HbE/β-thalassemia alongside iron deficiency anemia.
• These findings offer new insights for diagnosing challenging anemic patients.