Hemoglobinopaties LAB - pre and post-natal diagnostics

Hemoglobinopathies include a group of disorders, generally with autosomal recessive transmission, characterized by a reduced synthesis of one or more globin chains (thalassemia) or by the synthesis of structurally anomalous hemoglobins (hemoglobin variants). Although with a different incidence in specific ethnic groups, this type of pathology constitutes, on the whole, one of the most common monogenic disorders in the world population. In particular, in the Campania Region about 3% of the population is the bearer of a thalassemia defect.

The molecular diagnosis of hemoglobinopathy can be used to confirm a diagnostic suspicion, to perform a prenatal diagnosis in couples at risk, to define the genotype of complex and / or atypical phenotypes that can derive from the combination of different defects in the globin genes, for carry out screening and early identification of at-risk couples.

The molecular bases of this group of pathologies are extremely heterogeneous. For the post-natal or prenatal diagnosis of hemoglobinopathies at the CEINGE-Biotecnologie Avanzate are available methods of gene sequencing and Multiple Ligation-dependent Probe Amplification (MLPA) which are used, respectively, for the characterization of point mutations and large gene rearrangements.