Genotype and Phenotype in Pregnant Women with Both Alpha and Beta Thalassemia Mutations Attended at Vietnam National Hospital of Obstetrics and Gynecology

Abstract

Introduction: The number of studies that explore people with both alpha and beta thalassemia mutations is still low, not only in Vietnam but around the world as well. We conducted this study to explore genotypes and phenotypes of pregnant women who have both alpha and beta thalassemia mutations in comparison to those who don’t have any thalassemia mutations and those who have either alpha or beta thalassemia mutations.

Methods: This was a cross-sectional study conducted in the National Hospital of Obstetrics and Gynecology from September 2020 to July 2021 on medical records of 6929 pregnant women who attended the hospital between 2015 and 2021. Mutation analysis was performed by the α-Globin Strip Assay (Vienna Lab, Austria) and Strip Assay MED (Vienna Lab, Austria).

Results: There were 18 pregnant women with both alpha and beta thalassemia genes, in which only SEA mutation caused alpha thalassemia and nearly 70% of beta thalassemia was caused by CD26 mutation. In comparison with pregnant women who didn’t have any thalassemia genes, those with both mutations had higher RBC, RDW, HbA2 and lower HGB, HCT, MCV, MCH, MCHC, and HbA1. We only see the statistically significant difference in HbA1 and HbA2 between those with both mutations and those with either alpha or beta thalassemia mutations.

Conclusion: In conclusion, our study showed that there were differences in genotype and phenotype between pregnant women with both alpha and beta thalassemia mutations and other types of thalassemia as well as those without thalassemia.