A Population-Based Study on the Epidemiological Trends, Molecular Diagnosis, and Disease Burden of Hemoglobinopathies: Assessing the Impact of Hemoglobin Variants on Public Health Outcomes

Abstract

Introduction: Hemoglobinopathies, including sickle cell disease and thalassemia, represent a significant public health challenge, particularly in regions with high prevalence. This study aims to examine the epidemiological trends, molecular diagnosis, and disease burden of hemoglobinopathies, focusing on how different hemoglobin variants impact public health outcomes. Understanding the genetic diversity and its effect on disease progression is critical to formulating targeted health interventions and improving care for affected populations. The study evaluates both genotypic and phenotypic variations of hemoglobinopathies and their long-term effects on public health metrics such as mortality, morbidity, and healthcare costs. Objective: To assess the prevalence and distribution of hemoglobinopathies, identify molecular variants, and understand the impact on public health outcomes and healthcare systems. Methodology: This prospective cohort study was conducted at Sudan during jnauray 2024 till October 2024, including 550 patients diagnosed with hemoglobinopathies. Results: This study of 550 patients found HbS to be the most common hemoglobinopathy (54.5%), followed by HbC (27.3%) and β-thalassemia (18.2%). The HbS group had the highest hospitalization rate (52%), morbidity index (4.5), and complications like stroke (15%) and organ failure (25%). HbC and β-thalassemia had lower rates and complications. Genotype-phenotype analysis showed HbS/HbS had the most severe symptoms and earliest onset (4.5 years). Conclusion: The study emphasizes the critical need for widespread screening and genetic counseling in high-risk populations to reduce the public health burden of hemoglobinopathies. Early molecular diagnosis and continuous medical care are key strategies in improving health outcomes and reducing the long-term economic costs associated with these diseases.