Hemoglobin Bart’s disease and the Agrinio mutation: A case report of successful fetal intervention

To our knowledge, this is only the second reported case of BHFS resulting from homozygous Hb Agrinio successfully managed with intrauterine transfusions, and uniquely, the first to achieve term delivery. This case highlights the importance of considering unstable α-globin variants in the differential diagnosis of unexplained fetal hydrops in an at risk population. Early diagnosis and timely intrauterine transfusions can significantly improve the perinatal outcomes in these cases.