Two pregnant women with abnormal hemoglobin tests confirmed to have rare mutations for β-thalassemia: A case series study

Thalassemia is a well-understood genetic disorder, and routine genetic tests typically cover 95% of known genetic mutations. Discordance between the clinical phenotype and genotypes suggest that expanded genetic studies should be performed to look for rare mutations.We report two pregnant women at 17 week gestations. Routine laboratory and geneti