Hemoglobinopatias em Portugal e a intervenção do médico de família

Abstract

Hemoglobinopathies are among the most common inherited diseases. Early diagnosis can reduce morbidity and mortality with prompt implementation of preventive and therapeutic measures. The family physician can perform screening tests for hemoglobinopathies to help achieve this. This article reviews the clinical and epidemiological features of the major hemoglobinopathies. Based on these characteristics, an approach is proposed for primary health care services to identify and manage the complications related to these conditions. In order to promote critical reflection on this topic, we have collected the literature on the epidemiology of these conditions in Portugal. There is only one Portuguese guideline on hemoglobinopathies. This was published in 2004 but there have been no epidemiological studies published in Portugal since the 1980s. Given the patterns of external and internal migration of the population since that time, health professionals should reflect on the need for targeted screening for hemoglobinopathies in the risk areas identified previously. We conclude that is urgent to sensitize and train family physician to address these conditions. A new study of the national epidemiology of hemoglobinopathies and possible regional variations is necessary in order to make decisions based on scientific evidence and focused on the specific needs of the population.