Thi Tuyet Nhung Ngo, Thi Thanh Ha Ly, Diem Ngoc Ngo, Thi Phuong Mai Nguyen, Thuy Lan An, Thi Mai Huong Nguyen, Manh Tien Ngo, Hoang Nam Nguyen
Background: Thalassemia is one of the most common single-gene disorders worldwide. There are two major types of thalassemia: alpha and beta thalassemia. In this study, we reported a case of concurrent alpha and beta thalassemia disease.
Methods: This is a case report. A healthy couple had their first child with beta thalassemia major who was treated by blood transfusion once a month. However, the fetus of their second pregnancy was diagnosed of having hydrops fetalis of unclear etiology and the couple decided to have pregnancy terminated at 26 weeks of gestation. The couple then were the referred for genetic counseling at National Children’s Hospital. Complete blood counts (CBC), high performance liquid chromatography (HPLC) and molecular testing (ARMS-PCR; Gap-PCR; C-ARMS-PCR) were applied to detect red blood cell profiles, Hb typing, and common gene mutations of alpha and beta thalassemia.
Results: The findings of the husband specimens were as following: RBC 5.25×109/L, Hb 13.7 g/dL, MCV 81.1 fL, MCH 26 pg, HbA2 5.7%, HbA 94.3%, and heterozygote for αα/−α3.7 mutation in the HBA gene, and heterozygote for Cd71/72(+A) mutation of the HBB gene. The wife’s results were as follow: RBC 4.34×109/L, Hb 108 g/dL, MCV 77.7 fL, MCH 24.8 pg, HbA2 5.8%, HbA 94.2%, heterozygote for αα/--SEA mutation in the HBA gene, and heterozygous for the CD41/42 mutation in the HBB gene.
Conclusions: Genetic testing is necessary for accurate diagnosis of thalassemia carrier which would lead to more precise genetic counseling.
