In case of a severe chronic disease not till having a definitive therapy and overall that cannot be prevented, in order to reach this objective all the useful interventions are obviously necessary.

If the thalassaemic carrier is identified and made aware before a conception he is able:

• to avoid with certainty the possible disease of children choosing a not thalassaemic partner;
• to decide not to procreate in case of a couple at risk.

These two possibilities represent the true primary prevention because a sick foetus conception is avoided, and at the same time all the ethical and moral appearances do not overwhelm the couple.

The couples at risk that voluntarily or unconsciously are formed and decide to conceive or have already conceived a child, is recommended as prevention, in order to avoid the birth of child with the disease, to adopt the foetus prenatal diagnosis and the voluntary pregnancy termination just in case of a resulting sick foetus. In this case, it is evident that this intervention does not represent a real prevention plan but only allows avoiding the birth of a sick child.

The prenatal diagnosis to identify the Mediterranean anaemia in the foetus

Today, the prenatal diagnosis is performed in order to exam the foetus through the study of the foetal DNA extracted by chorionic villi fragments carried out at 10-12 weeks of pregnancy (villocentesis). The collecting of the chorionic villi is carried out crossing the abdominal wall with a special needle.

The essential condition to be able to perform the villocentesis consists in having identified the genetic mutations affecting both the partners of a couple. Without this molecular investigation, it is not possible to perform the DNA study of the foetus.

The villocentesis allows knowing the genetic situation of the foetus but, at this moment, there is not possibility of therapeutic interventions for possible foetus affection.

Pre-implantation diagnosis

The gravity of the moral difficulties, that the villocentesis sets, has immediately turned the research to alternative procedures not implicating the embryo genetic manipulations or the voluntary pregnancy termination. Therefore, projects to set pre-conceptional techniques have been planned.

One of these consists of collecting not fertilized oocytes from a β-thal carrier woman. During the different phases of maturation the oocyte expels the 1° and the 2° polar body. The analysis of the DNA of one of these polar bodies, implying that if a thalassaemic mutation is present in a polar body, is not more present in the oocyte, allows the oocytes' selection without thalassaemic mutation and thereby in vitro fertilized ones for implantation in the uterus.

At the moment, these new techniques are in an experimental phase and however are not still applicable fluently.