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In 1925 in the United States, the American pediatricians Cooley and Lee described a disease, named Cooley's anaemia, in children of Italian and Greek immigrants, today known as thalassemia major or Mediterranean anaemia. At about the same time, in Italy, Rietti described a disease having a symptomatology similar to the Cooley's anaemia but lighter, that became known as 'La Malattia di Rietti-Greppi-Micheli and today as thalassemia intermedia.

Ezio Silvestroni, Ida Bianco

In 1943 two known Italian haematolog ists, Ezio Silvestroni and Ida Bianco, have described a hereditary anomaly, individualized in healthy subjects that has been named "microcitemia". Immediately after the ‘microcitemia’ discovery, Silvestroni and Bianco noticed, with a long series of researches, that the Cooley’s anaemia cames from the homozygous condition that results in a sick child, and which is born only if both his parents transmit their ‘microcitemica’ alteration. The hereditary transmission, according to the laws of Mendel, of the thalassaemias has been verified through the vast familiar case of histories picked up by Silvestroni and Bianco in more than 1100 families of heterozygotes and over 200 of homozygotes for the β thalassaemia.

Ida Bianco ed Ezio Silvestroni con il personale medico dell'Istituto Provinciale per l'Infanzia di Ferrara

These studies have shown that in the families with one thalassaemic carrier parent and one normal is previewed at statistical level that: the 50% will be normal children and the 50% thal carriers. While in the families with both β thal carriers, parents the 25% of their children will be normal, the 50% will be β thal carriers and the 25% will be affected by the Mediterranean anaemia. These searches have been developed contemporarily to those of other American researchers and, independently the two groups of researchers have reached the same conclusion.

The geographic distribution of thalassaemia

The today unchanged geographical map of the thalassaemias in Italy was outlined in detail by the populationistics researches carried out by Ezio Silvestroni and Ida Bianco, during the 1960s. By the picked data, they calculated that, in Italy, around 2.500.000 β thal carriers were present and that, Mediterranean anaemia patients, living at that time, were around 8.000.

Mappa storica dell'Italia

The "Associazione Nazionale per la lotta contro le Microcitemie in Italia" is instituted

Silvestroni and Bianco have concretely faced, for the first time, the problem of the illness healthycare and prevention. Also following their studies, a net of Regional Centers for the study, the care and the prevention of the thalassaemias have been realized, in all the Italian regions most stricken by the illness. These Centers have been managed by the "Associazione Nazionale per la lotta contro le Microcitemie in Italia" on purpose founded and still working. The demonstration that the sick children are born only from two parents' healthy carriers has given the input to carry out a prevention attempt that in that years could only be based on the precocious information and on the free choice not to form couples at risk or not to procreate among thalassaemia carriers.

Thalassaemia: the world spread

While Italy was already in the van in patients care, a great diffusion of the thalassaemias was discovered in all the Mediterranean countries (the word 'thalassaemia' is a Greek term from thalassa, which means "the sea", and emia, which means "related to blood") and the Asian continent, that began wide thalassemia studies and researches, well soon spread all over the world (Africa, Asia and south America).

Meanwhile, the fundamental therapy protocols of the Cooley's anaemia were set and, during the last decades, they have led to lifelong survival of patients toward advanced ages: from the 3-4 years, as reported in the past, to around 40 ones, as reported today.

At the end of the years '80, the more and more wide application of the DNA studies evidenced an enormous variety of molecular thalassaemic defects and proposed again the problem of the prevention based on new strategies. To this aim, different programs have been applied in many countries, among which Italy.

Excellent results of the prevention in Lazio

A wide plan, since 30 years carried out within the activities of the Associazione Nazionale contro le Microcitemie in Italia [http://www.anmi-microcitemie-roma.it/], has already resulted, since about 13 years, in the complete cessation of births of Mediterranean anaemia patients from unaware couples.

Prevention in Italy

On the national territory, the prevention strategies have settled a progressive decrease in number of the living sick from 8.000 to around 3.500 as reported today.