Thalassemia and sickle cell disorders (SCD) are among the most common monogenic disorders worldwide. They cause chronic hemolytic anemia, the consequences and prognosis of which vary considerably depending on the genetic characteristics of patients and the healthcare system in their country of residence. They are autosomal recessive in their transmission, with carriers generally being asymptomatic. Informing carriers of thalassemia or SCD about reproductive risks and choices, while taking into account cultural and religious considerations, is a priority within global strategies to improve outcomes for these diseases.
de Montalembert, M., Cappellini, M. D., Iolascon, A., de Franceschi, L., Ömur, E., Abi Saad, M., … & Rees, D. (2026). EHA Recommendations for preconceptual and antenatal screening and prenatal diagnosis for hemoglobinopathies. HemaSphere, 10(6), e70381. EHA Recommendations for preconceptual and antenatal screening and prenatal diagnosis for hemoglobinopathies – de Montalembert – 2026 – HemaSphere – Wiley Online Library