The history of thalassaemia
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...
Red blood cells, human haemoglobins and globin genes
The red blood cells (or erythrocytes) are the principal component of the blood: they are round organelles, of microscopic size, all equal, full of a liquid substance, the haemoglobin...
The thalassaemic globin genes
The globin genes can present various types of alterations that gives origin to the different forms of thalassaemia. The most common alterations are the deletions...
The thalassaemic varieties
According to the different location of the mutations we have different types of thalassaemias. The most common are...
Thalassaemic blood features
In the more easily identifiable forms of thalassaemia heterozygosity, the haemoglobin level is reduced while the number of the circulating red blood cells (RBCs) is superior to the norm. The Hb deficiency...
Inheritance
The thalassaemia is transmitted from parents to their children as dominant, Mendelian, autosomal characters (not sex-linked) and without jumping generations...
Mediterranean anaemia
This disease is caused from the homozygous genetic condition for a severe β thalassaemic defect (in Italy very often...
Thalassaemia intermedia
It is a disease caused by the presence in the same individual of two or more thalassaemic characters. The severity of the pathology is tightly connected to the different mutations...
Prevention
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...
Prevention optimal strategy
The identification and the precocious information addressed to the young thalassaemic subjects, hence since the adolescence, are essential appearances for a correct preventive strategy...
Actual situation
In Italy, a statistical investigation, led in 1994 by officials of the Ministry of the Health, has pointed out that in the various thalassaemic sources prevention levels ranging from 48 to 88% have been reached...
Drepanocytic anaemia
The drepanocytic anaemia is a native disease of the African countries where the healthy carriers are even the 25% of the population. At smaller frequencies, it is also present in Italy...
Microdrepanocytic disease
The association of the Hb S mutation with a β thalassaemic defect gives arise to another disease, the microdrepanocytic disease. This disease, discovered and described for the first time...
World spread
The Mediterranean anaemia is a much severe disease with also a high frequency in many countries of the various continents. In Italy the studies performed by Silvestroni and Bianco have shown the presence...
Thalassaemia - Sickle cell anaemia - Malaria
Immediately after the discovery of the particular distribution in the world of the different thalassaemias, a narrow correspondence of geographic distribution between the thalassaemic areas and the malarial endemia...
