Hemoglobin D and hemoglobin E variants in North India: diagnostic insights from high-performance liquid chromatography and correlation with hematological parameters
Nehal Ahmad, Durre Aden, Sabina Khan, Farhanul Hassan, Azhar UddinAbstract
Background:
Hemoglobin E (Hb E) and hemoglobin D-Punjab (Hb D-Punjab) are important hemoglobinopathies in India, showing a wide variety of clinical and hematological features.
Objectives:
This study aimed to conduct a detailed clinical and hematological evaluation of these variants.
Materials and Methods:
After obtaining approval from the Ethical Clearance Committee (HIMSR/IEX/00389/2025), a retrospective cross-sectional study was conducted over 5 years (January 2020–January 2025) at a tertiary care hospital, including 3500 patients. Peripheral blood samples from individuals suspected of hemoglobinopathies based on complete blood count and peripheral smear findings were analyzed using cation-exchange high-performance liquid chromatography (CE-HPLC). Comprehensive hematological parameters, along with iron profile studies, were assessed and correlated with CE-HPLC results.
Statistical Analysis:
Data were analyzed using descriptive statistics and Student’s
Results:
Of the 3500 cases studied, hemoglobin (Hb) abnormalities were detected in 1.5% (53 cases). Of these, 62.3% (33 cases) were Hb E, and 37.7% (20 cases) were Hb D-Punjab. Peripheral smear examination showed microcytosis, target cells, and decreased mean corpuscular volume (MCV), with normal iron profiles. Hb E heterozygotes exhibited a characteristic elution peak in the Hb A2 window, whereas Hb D-Punjab cases displayed a peak at 3.8 ± 0.1 min. Significant differences in red blood cell count, MCV, and Hb A levels (
Conclusion:
CE-HPLC is a valuable tool for distinguishing Hb E and Hb D-Punjab, enabling accurate diagnosis, genetic counseling, and preventive actions. Early detection and proper characterization are essential for reducing the disease burden in this region.