Update on Prevention of Hemoglobinopathies in Azerbaijan

Hereditary hemoglobinopathies, particularly β-thalassemia, are highly prevalent in Azerbaijan, posing a significant public health challenge. In response, the Azerbaijani government implemented a national prevention program that includes mandatory premarital screening and prenatal diagnosis for at-risk couples, aiming to mitigate the impact of these diseases. This report covers the first five years of the program, beginning in 2015. Among 287 identified at-risk couples, 271 fetal samples were analyzed, revealing that 148 were carriers, 63 were affected, and 60 were unaffected. In nearly all cases, affected pregnancies were terminated. The most common mutations detected were Codon 8 [-AA], IVS-II-1 [G > A], and IVS-I-110 [G > A] in the HBB gene. Since the program's inception, the birth rate of affected children has significantly decreased, making this established approach a valuable model for other regions facing similar challenges with autosomal recessive disorders.