A detailed knowledge of the prevalence of α-thalassemia (including carrier status) and of its genetic diversity is essential to define policies aimed at reducing the long-term health burden of hemoglobinopathies, allowing for precise diagnosis (and therefore avoiding inaccurate and expensive investigations), establishing the real cause of microcytosis, providing adequate genetic counseling, and allocating resources to address the emergency and long-term needs of patients and their relatives in a cost-effective manner. To achieve these goals, the medical community faces several important challenges, summarized in Table 1.
Most couples at risk for conceiving fetuses with hemoglobin Bart’s hydrops fetalis are not currently identified. It is therefore highly likely that current estimates represent large underestimates of stillbirths caused by this disorder.4 In the absence of specific treatments and a clear understanding of the underlying mechanisms responsible for the wide range of congenital abnormalities associated with this lethal disorder, screening and early prenatal diagnosis represent the only options to identify pregnancies at risk and to prevent severe maternal complications. Although termination of affected pregnancies is usually recommended owing to the increased risk of severe maternal and fetal complications and the psychological effects on families, cultural and religious backgrounds need to be carefully taken into account when counseling couples at risk, both in communities in which α-thalassemia has traditionally been prevalent and in those in which it has recently been introduced through migration. 18,47 A correct diagnosis early in pregnancy is essential to avoid severe medical complications and psychological trauma. Such a diagnosis can be made reliably with relatively low costs provided that pregnant women receive regular follow-up care from medical staff familiar with this syndrome.