Aim and background Hemoglobinopathies such as thalassemia and sickle cell disease are among the most common genetic disorders in India, with carrier rates ranging from 3% to 17%. Each year, 9,000–10,000 new β-thalassemia cases are added, and prevalence is particularly high among certain ethnic groups, scheduled tribes, and in eastern/northeastern regions with HbE. Despite 10,000–12,000 thalassemia births annually, most affected children lack adequate care. Strengthening public awareness, carrier screening, prenatal diagnosis, and access to treatment is essential, with HPLC serving as preferred diagnostic tool. Material and method This one-year observational study at PGIMS Rohtak included all samples submitted for HPLC with suspected hemoglobinopathies. Each sample underwent complete hemogram and HPLC analysis to detect and characterize hemoglobin variants. Chromatogram findings were interpreted with CBC data to ensure diagnostic accuracy. Result Of all samples analyzed, 74.9% showed normal HPLC patterns, while 25.1% revealed abnormalities. β-thalassemia trait was the most common hemoglobinopathy (55.7%), followed by HbD Punjab heterozygous (25.8%) and HbE heterozygous (4.9%); fewer cases of β-thalassemia major, intermedia, HbE homozygous, double heterozygous HbE/β-thalassemia, and sickle cell trait were identified. Most hemoglobinopathies occurred in individuals ≤30 years, with a female predominance in several subtypes. Hematological profiles showed microcytic hypochromic anemia in thalassemia major, moderate indices in intermedia/trait, higher red cell parameters in HbE homozygous, and elevated HbF in thalassemia major. Conclusion HPLC is a rapid and reliable method for detecting hemoglobinopathies, demonstrating regional variation and distinct subtype profiles. Complementary molecular methods and genetic counselling are essential for better management and prevention.
Chhabra et al. (Fri,) studied this question.