Study on hemoglobinopathies and Glucose-6-phosphate dehydrogenase deficiency in Terai districts of Koshi, Bagmati and Gandaki provinces in Nepal

Abstract

Executive Summary Hemoglobinopathies are a group of recessively inherited genetic disorders characterized by abnormalities in hemoglobin, the molecule in red blood cells the delivers oxygen throughout the body. So far, over 1,000 abnormalities genotypically and phenotypically such as thalassemia, sickle-cell disease (SCD), etc. has been found. Glucose-6-phosphate dehydrogenase (G6PD) deficiency is the most common enzymopathy worldwide, affecting an estimated 400 million people. Hemoglobinopathies and Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency is significant public health concerns, particularly in malaria-endemic regions. There is reported prevalence of these conditions among Nepalese population especially among Tharu residing in western and Far-Western regions. Despite a good number of researches performed in this area, the precise burden of these conditions in both Tharu and Non-Tharu populations remains uncertain. Thus, this study aims to estimate the prevalence of Hemoglobinopathies and G6PD deficiency and its associated clinical symptoms among 1-29 years population in the Terai districts of Nepal. This nationwide study was planned to conduct in the Terai region of all provinces in Nepal. In this third phase of the study, a cross-sectional survey was carried out in selected districts of Koshi, Bagmati and Gandaki province. A total of 1,680 participants aged 1-29 years were enrolled in this study: 288 participants for Bagmati Province (Chitwan district) and 256 Gandaki Provicne (Nawalpur district) and 1,120 participants for Koshi Province (Jhapa, Morang and Sunsari districts). Data was collected through structured questionnaires and blood sample analysis, which included complete blood count, hemoglobin electrophoresis, and G6PD level assessment which were done in the months of Baisakh and Jestha, 2081. The blood samples were tested in Provincial Public health laboratories and Bir Hospital.

The study revealed a higher prevalence of Hemoglobinopathies among the Tharu population compared to the Non-Tharu population 16% in Chitwan and 25% in Koshi province. Thalassemia was the most common hemoglobinopathy identified, followed by Hemoglobin E (HbE) abnormality/trait. Few cases of Sickle cell trait (0.5%) were identified in Koshi Province while that was absent in Bagmati and Gandaki Province (Chitwan and Nawalpur). Anemia prevalence was significantly higher among Tharu participants (49.5-58.4%), especially younger age groups and females. A notable proportion of male participants (6.8%) in Chitwan exhibited G6PD deficiency. Most participants with Hemoglobinopathies or G6PD deficiency were asymptomatic. Among participants experiencing symptoms, headache and abdominal pain were the most commonly reported symptoms. This study highlights the significant burden of Hemoglobinopathies especially thalassemia and HbE abnormality and G6PD deficiency in the Terai region of Nepal, particularly among the Tharu population. The findings underscore the need for targeted public health interventions, including awareness campaigns, genetic counseling, expanded screening programs, and improved healthcare infrastructure to address these conditions effectively.