Hemoglobinopathies are among the most common monogenic disorders worldwide, with an estimated 7% of the global population carrying abnormal hemoglobin genes (1). These disorders include structural variants such as sickle cell hemoglobin (HbS, HbC, HbD, HbE) and quantitative abnormalities such as β-thalassemia and hereditary persistence of fetal hemoglobin (HPFH). The clinical manifestations range from asymptomatic carriers to severe transfusion-dependent anemias, and the burden is particularly high in developing countries where screening and genetic counseling programs are still evolving (2).

 

In India, hemoglobinopathies are a major public health problem due to the country’s ethnic heterogeneity and large tribal population. Ghosh et al. highlighted that HbS predominates in central and eastern India, particularly in tribal belts, while HbE is more frequent in the North-East (3). Community-based studies across states confirm that prevalence varies from 1–40%, depending on region and endogamous practices (4,5,6). Importantly, tribal populations remain disproportionately affected due to high rates of consanguinity, limited access to healthcare, and lack of awareness (7).

 

High-Performance Liquid Chromatography (HPLC) has emerged as the method of choice for hemoglobinopathy screening, offering sensitive, reproducible, and quantitative analysis of Hb fractions. Unlike conventional electrophoresis, HPLC allows accurate detection of HbA₂, HbF, HbS, HbE, and other variants, making it useful for both carrier detection and disease diagnosis (8,9). Studies across India have demonstrated the utility of HPLC in diagnosing β-thalassemia trait, sickle disorders, and compound heterozygotes, as well as its limitations in cases with overlapping retention times (10,13).

 

Hospital-based studies from Western India report relatively lower prevalence of hemoglobinopathies (8–9%), dominated by β-thalassemia trait (11,10). In contrast, Central and South-Central India show a higher burden of sickle disorders, with Patil et al. reporting 20.5% abnormal cases dominated by SCT in Madhya Pradesh (12), and Baig et al. noting that sickle syndromes comprised over 56% of their cohort (9). Large-scale national datasets such as that of Warghade et al., analyzing 65,779 samples, revealed an abnormal prevalence of 18.4%, with β-thalassemia trait (11.2%) as the commonest finding (13).

 

Given this heterogeneity, there is an urgent need for region-specific data, particularly in tribal-dominant districts such as Andhra Pradesh, Odisha, and Telangana, where hemoglobinopathies contribute substantially to morbidity and mortality (14,5,6). Community-linked, HPLC-based screening not only enables early detection and counseling but also informs public health planning under initiatives such as the National Sickle Cell Anemia Elimination Mission (NSCAEM).

 

 

AIM AND OBJECTIVES

Aim:
To determine the prevalence and spectrum of hemoglobinopathies among patients and community members screened in a tribal-dominant region of Andhra Pradesh using High Performance Liquid Chromatography (HPLC).

Objectives:

1. To assess the distribution of hemoglobinopathies with respect to gender, age, and community background in the study population.
2. To evaluate the diagnostic contribution of HPLC in identifying sickle disorders, β-thalassemia syndromes, and rare hemoglobin variants.

Study Design: A cross-sectional observational study conducted at a tertiary care hospital serving tribal and non-tribal populations of Andhra Pradesh. Study Period and Setting: Data were collected over a defined study period from hospital attendees, antenatal clinics, community referrals, and outreach screening programs conducted under the National Sickle Cell Anemia Elimination Mission (NSCAEM). Sample Collection: A total of 3725 EDTA blood samples were collected. Samples were obtained from patients with clinical suspicion of anemia or hemoglobinopathy, individuals with family history of hemoglobinopathies, antenatal mothers, and community members screened at primary health centers and sub-centers. Inclusion Criteria: • Patients of all ages with anemia and clinical suspicion of hemoglobinopathy. • Individuals with a positive sickling test or positive family history. • Pregnant women attending antenatal screening. • Individuals referred by community health workers under screening programs. Exclusion Criteria: • Patients who had received a blood transfusion in the preceding 3 months. Laboratory Methods: • HPLC Analysis: All samples were analyzed on the Bio-Rad D-10 analyzer using the short program. Hemoglobin fractions including HbA, HbA₂, HbF, HbS, HbE, HbD, and rare variants were quantified. • Peripheral smear and sickling tests were reviewed for correlation. • Presumptive identification of variants was based on retention time (RT) windows and peak area percentage, following manufacturer guidelines. Data Analysis: • Results were tabulated for age, gender, type of hemoglobinopathy, and community distribution. • Frequencies and percentages were calculated. • Comparative analysis was performed with previous Indian studies to highlight regional variations.