Uncovering Silent Hemoglobinopathies: Utility of HPLC in Outpatient Screening
DOI:
https://doi.org/10.59793/eqzv6w94Keywords:
Hemoglobinopathies, beta-thalassemia trait,, HPLC,, carrier detection, sickle cell trait,, antenatal screening,, genetic counselingAbstract
Hemoglobinopathies are among the most common inherited red cell disorders globally and pose significant public
health burden in India. Differentiating hemoglobinopathies from nutritional anemia, particularly in antenatal women, remains a
diagnostic challenge. The aim was to determine prevalence and spectrum of undiagnosed hemoglobinopathies among patients
attending outpatient clinics using high-performance liquid chromatography (HPLC). Methods: A cross-sectional observational
study was conducted from January 2022 to December 2024. A total of 7,440 blood samples from patients attending general
medicine, pediatrics, and antenatal OPDs were analyzed. Patients with a known diagnosis of hemoglobinopathy, recent blood
transfusion (within 1 year) and patients with uncontrolled diabetes were excluded. Complete blood count (CBC), peripheral
smear, sickling tests, and HPLC chromatograms were analyzed. Results: A total of 7,440 outpatient samples were analyzed and
a female preponderance (81.2%) was seen in the study population. Among these, 162 cases (2.17%) were found to have abnormal
hemoglobin (Hb) fractions suggestive of hemoglobinopathy on HPLC. The most common hemoglobinopathy identified was the
heterozygous beta-thalassemia trait (1.37%), followed by heterozygous HbAE (0.32%), heterozygous HbAS or sickle cell trait
(0.18%), and heterozygous HbAD Punjab (0.14%). Rare Hb variants included homozygous sickle cell disease (HbSS) (0.04%),
hereditary persistence of fetal hemoglobin (HPFH) (0.05%), and 1 case each (0.01%) of homozygous HbEE, heterozygous HbAC,
compound HbE/beta-thalassemia, and delta–beta thalassemia. Additionally, 5 cases (0.06%) showed unidentified abnormal
peaks on HPLC that required further molecular testing. Peaks in the P03 and P04 retention windows were correlated with
elevated HbA1c in individuals with diabetes and excluded from hemoglobinopathy classification. Conclusion: HPLC is a
reliable, rapid, and sensitive tool for detecting both common and rare hemoglobinopathies in outpatient settings. Its integration
into routine antenatal and general screening can facilitate early diagnosis, genetic counseling, and preventive interventions.
Expanding access to HPLC testing can reduce the burden of transfusion-dependent hemoglobinopathies and improve long-
term patient outcomes.
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