Uncovering thalassemia diversity in southern China through next-generation sequencing

Around 5.2% of the global population carries abnormal hemoglobin genes. Each year, 300,000 to 500,000 children are born with severe hemoglobinopathies worldwide, with approximately 80% of these cases occurring in developing countries. Thalassemia is the most common hereditary hemoglobinopathy and occurs in 4.4 out of every 10,000 live births. It is prevalent in Mediterranean coastal areas, Africa, the Middle East, Southeast Asia, and southern China.