Hematology & Coagulation Case 96 May 3, 2023 pathadmin 527 Comments 1. Presented by Katya Dombrowski, MD. An adult patient presents to the obstetrician for a new pregnancy. Fetal ultrasound demonstrates ascites, pericardial effusion, and elevated blood velocity in the middle cerebral artery, concerning for fetal hydrops. Fetal blood sampling is performed, which demonstrates a mean corpuscular volume of 103.7 fL (reference range: 117.3-132.9 fL), a hemoglobin of 5.8 g/dL (reference range: 10.6-13.8 g/dL), and a hemoglobinopathy panel with absent hemoglobin A and hemoglobin F. A microarray and single nucleotide polymorphism analysis confirms deletion of 16p13.3, which encompasses the HBA1 and HBA2 genes.Which hemoglobinopathy does this infant have?A. Beta thalassemia majorB. Hemoglobin H diseaseC. Alpha thalassemia majorD. Alpha thalassemia minor Loading...