Prenatal diagnosis of hemoglobinopathies

Hemoglobinopathies are the most frequent and severe inherited diseases worldwide. Prenatal diagnosis is an effective way of controlling severe hemoglobin disorders for which effective treatments are not yet available everywhere. It is a multidisciplinary process requiring knowledge of the spectrum of molecular defects and involving laboratory investigations and genetic counseling. Hematological screening for these disorders is simple, rapid, and reliable. Carrier screening in populations at risk and genetic counseling are part of a number of European health programs, offering many couples at risk the chance of having a healthy child. This article describes the current molecular biology techniques for prenatal diagnosis of hemoglobinopathies.