This case report describes a fetus with compound heterozygosity for Hb G-Hsi-Tsou and beta thalassemia, diagnosed in a healthy pregnancy. To the best of our knowledge, this is the first documented case of compound heterozygosity and the woman is the second known case of heterozygosity for Hb G-Hsi-Tsou. A 34-year-old woman during her first pregnancy underwent routine early pregnancy screening and several tests were performed. All tests were normal, with the exception of hemoglobin electrophoresis, which revealed heterozygosity for Hb G-Hsi-Tsou. Hemoglobin G-Hsi-Tsou constitutes a hemoglobin variant with a structural abnormality of the beta chain, first described in 1972, but since then no other cases have been reported. After finding out that her husband was heterozygous for beta thalassemia, chorionic villus sampling revealed the embryo’s heterozygosity for both Hb G-Hsi-Tsou and beta thalassemia. Due to lack of scientific data, the couple decided to end the pregnancy. It was not possible to determine whether the fetus would present serious deficiencies in hematopoiesis, as Hb G-Hsi-Tsou is a variant which is not yet fully understood. What made this case even more complex was the simultaneous presence of the beta thalassemia allele.
MD Maria Androulaki graduated from the Department of Medicine, University of Patras, Greece, in 2019. She is currently in her first year of Obstetrics and Gynecology residency at General Hospital of Messinia, Kalamata, Greece. During her medical studies, she completed clinical internships at the Department of General Surgery at Zagazig University Hospital in Egypt and at the Department of General Surgery, Antoine-Béclère Hospital in Paris, France. Her main domain of interest is maternal-fetal medicine.