Case 96

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?


27 thoughts on “Case 96”

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