Inherited abnormalities of haemoglobin include a myriad of disorders ranging from thalassemia syndromes to structurally abnormal haemoglobin variants/hemoglobinopathies, and they are a major burden on healthcare in India. The carrier frequency of hemoglobinopathies ranges from 3–17% in India among different populations. India faces a major burden of β-thalassemia major.[1] The World Health Organization (WHO) estimates that only 12% of transfusion-dependent β-thalassemia (TDT) patients are properly transfused and only 39% have access to any chelation therapy; as a result, most patients with TDT do not reach full adulthood.[2] The general incidence of thalassemia traits and sickle cell anemia (SCA) in India varies between 3–17% and 1–44%, respectively.[3] Because of consanguinity, caste, and area endogamy, some communities show a very high incidence, making the disease a major public health problem in our country.[4] HPLC is a technique used to separate, identify, and quantify each component in a mixture. HPLC has emerged as a pivotal method for the accurate detection and diagnosis of hemoglobinopathies, offering advantages over traditional electrophoresis techniques.[5] Studies have shown that HPLC is highly sensitive, specific, and capable of quantifying various haemoglobin variants with precision, making it a valuable tool in the identification of abnormal haemoglobin patterns. Several hemoglobinopathies can be prevented and managed with the help of HPLC, which provides a trustworthy instrument for early and accurate detection.[6] The objective of this study is to determine the prevalence of various hemoglobinopathies in our region.

This is a retrospective study. The study was conducted at the Department of Pathology, Government Medical College Amravati, from January 2025 to December 2025. A total of 1260 samples were received for HPLC to detect hemoglobinopathies. The inclusion criteria comprised patients referred for antenatal or voluntary premarital checkups, patients with a clinical history and CBC suggestive of haemolytic anemia, and family members of known cases of hemoglobinopathies. Patients with a history of blood transfusion within the last 1 month were excluded. Detailed family and clinical histories were obtained from the patients. For CBC analysis, 3 mL of blood was collected in an ethylene diamine tetraacetic acid (EDTA) vacutainer and analyzed on a 5-part cell counter on the same day. Various parameters were noted, such as MCV, MCH, MCHC, Hb, and hematocrit. For HPLC, samples were stored at 4–8°C and were analyzed in batches within a week.

Gender Distribution: In this study, out of the total [1260] cases, 64.2%( 809)were females and 36.8% (451) were males. The number of females is higher because they are routinely advised to undergo HPLC during their first antenatal visit. Table 1: Gender Distribution of Patients Sex Sample % Female 64.2 (809) Male 36.8 (451) Out of the total 1260 patients, 364 (28.8%) had aberrant haemoglobin fractions, while 896 (71.2%) showed a normal Hb pattern. Among the 364 patients with abnormalities, the most prevalent anomaly was the sickle cell trait at 11.6% (147), followed by the β-thalassemia trait at 11.5% (145). Sickle cell disease was found in 4.4% (56). Two instances (0.15%) had β-thalassemia major, and seven cases (0.5%) had double heterozygous β-thalassemia with sickle cell trait and hereditary persistent fetal haemoglobin (HPFH). Additional variations found include HbE heterozygous (5 cases) and HbD-Punjab trait (1 case). Table 2: Prevalence of Various Hemoglobinopathies in the Study Population Hb Variants Number of Cases Percentage (%) Normal 896 71.2 Sickle cell trait 147 11.6 β-thalassemia trait 145 11.5 Sickle cell disease 56 4.4 Sickle cell-thalassemia trait 7 0.5 HPFH 7 0.5 HbE Heterozygous 5 0.39 Thalassemia major 2 0.15 HbD Punjab 1 0.07

Hemoglobinopathies are prevalent illnesses that significantly affect several nations, including India. A class of congenital anemias known as thalassemia is characterized by quantitative abnormalities in one or more of the globin chains that make up normal haemoglobin. However, specific mutations lead to the production of structural variations at a lower rate (such as HbE, HbS, and Hb Lepore) and hyper-unstable haemoglobin variants with a thalassemia phenotype.[7] Previously limited to specific regions, faiths, social classes, and ethnic groups—especially associated with consanguineous unions—these illnesses are now routinely observed worldwide. This is because different demographics have migrated over time, resulting in a diversified population in terms of sociocultural backgrounds, linguistics, and ethnic backgrounds.[8] The gender distribution in the present HPLC-based hemoglobinopathy study (64.2% female vs. 36.8% male) is consistent with the findings of studies performed by Pathak et al.[9] and Mukhopadhyay et al.[10] Most studies reporting a higher proportion of females attribute this mainly to antenatal care (ANC)-based screening, as well as premarital and reproductive-age screening programs. In this present study, the prevalence of hemoglobinopathies was found to be 28.8% of the studied cases, which is comparable with studies conducted by Patil et al.[11] and Solanki et al.[12] Patil et al. reported a 20.5% prevalence, while Solanki et al. reported a 34.0% prevalence in their study. In our study, sickle cell trait was the most common abnormal haemoglobin detected (11.6%), compared to 14.22% in Patil et al., 9.4% in Solanki et al., and 10.9% in Gupta et al.[13] The present study reveals a striking burden of sickle-related disorders, including S trait [11.6%], S disease [4.4%], and compound S β-thalassemia (0.5%), together accounting for [16.5%]. Sickle cell disease is a major public health challenge in India, which has the second highest number of sickle cell births globally after Nigeria.[14] The mutation is particularly prevalent among aboriginal tribal populations (Adivasis) and historically disadvantaged groups (Scheduled Castes).[14] The highest prevalence is observed on the Deccan plateau of central India, including regions like Madhya Pradesh, Maharashtra (Nagpur and the Vidarbha region), Chhattisgarh, and Gujarat. The high prevalence of SCA in the Vidarbha region provides a substantial population for this study and yields highly meaningful data.[15] Colah et al. reported that nearly 1.5% of the world's population are carriers of β-thalassemia.[16] In our study, the proportion of β-thalassemia trait was 11.5%. By comparison, the prevalence reported by Pathak et al. was 11.5%, Philip et al. reported 10.49%,[17] and Gupta et al. reported 9.53%.[13]

By comparing regional data and establishing the prevalence of hemoglobinopathies in the local population, we conclude that the rapid determination of these hemoglobinopathies is the need of the hour to prevent transmission to future generations. For the early diagnosis and treatment of hemoglobinopathies and haemoglobin variations, HPLC has proven to be a sensitive, precise, and reliable method. Given the high prevalence of the sickle cell trait and thalassemia trait in India, screening should be conducted both prior to marriage and throughout pregnancy to prevent the birth of children with β-thalassemia major. The current community burden of thalassemia may be eliminated in the future, or at least significantly reduced, with greater awareness and the adoption of this straightforward screening method. Currently, bone marrow transplantation is the only curative form of treatment for these disorders. Unfortunately, it is extremely costly and available at only a few centres across the country. Therefore, prevention remains the most effective strategy to manage these disorders. The two most critical factors for the prevention of hemoglobinopathies are educating the general population regarding the disease and executing targeted screening in high-risk populations. HPLC has proven to be an effective and indispensable screening tool for this purpose.

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