By including hemoglobinopathies in the National Neonatal Screening Program (PNTN), Brazilian Ministry of Health Directive # 822/01 has taken an important step towards recognition of their relevance for public health in the country. However, except at a few specialized centers, the public health care system is unprepared to meet the goals laid out under the directive. As the first step to effectively implement the guidelines, it is thus necessary to disseminate information on hemoglobinopathies among health professionals working in public health, especially those involved in neonatal screening. This article discusses some of the unique characteristics of hemoglobinopathies in comparison to other metabolic disorders included in the National Neonatal Screening Program. The authors also analyze potential sources of misunderstanding that could jeopardize the program's outcome.
Hemoglobinopathies; Neonatal Screening; Public Health; Genetics