The Burden of Thalassemia and Various Hemoglobinopathies in Bihar: Trends and Patterns

In India, the carrier frequency of the β-thalassemia trait (βTT) is substantially higher than the global average, estimated at 3.3% compared with 1.5% worldwide. The prevalence of βTT across India shows marked geographic variation, ranging from 0.5% to 17%, largely influenced by population migration, endogamy, and intercaste marriages. This genetic and demographic diversity makes India a complex conglomerate of multiple biological populations. The present study aimed to evaluate the spectrum of hemoglobinopathies and thalassemia in a region of Eastern India using cation-exchange high-performance liquid chromatography (CE-HPLC), while also analyzing associated demographic characteristics and hematological parameters.

This was a two-year (June 2022-May 2024), single-center, retrospective observational study involving 2,329 subjects who were screened for thalassemia and other hemoglobinopathies using CE-HPLC at the Department of Hematology of a tertiary care center in Northern India.

Of the 2,329 subjects screened, 2,067 (88.7%) were diagnosed as normal, 167 (7.1%) had βTT, and 35 (1.5%) were double heterozygous for HbE and βTT. The mean red blood cell (RBC) count among individuals with βTT was 4.58 ± 1.11 million/cumm, the highest among all hemoglobinopathies except for two cases of HbD-Punjab trait, which demonstrated a mean RBC count of 4.62 ± 0.36 million/cumm. HbF fractions were highest in cases of β-thalassemia major/intermedia, followed by individuals with double heterozygous HbE and βTT. Categorical variables were expressed as percentages, while numerical variables were summarized as mean ± standard deviation (SD). Statistical analysis was performed using SPSS version 25.

This study underscores the high prevalence of β-thalassemia trait and other hemoglobinopathies in Eastern India, emphasizing the need for widespread screening programs and the adoption of improved diagnostic modalities.