Thalassemia are forms of inherited autosomal recessive blood disorders that originated in the Mediterranean region. In thalassemia, the disease is caused by the excessive destruction or degradation of red blood cells due to formation of abnormal hemoglobin molecules, because of a defect through a genetic mutation or deletion.
There are two major forms of the disease – alpha and beta (see below), which are prevalent in discrete geographical clusters around the world, where it is presumably associated with presence of malaria.
The alpha form is prevalent in peoples of Western African and South Asian descent. Nowadays, it is found in populations living in Africa, the Americas and also, in Tharu in the Terai region of Nepal and India. It is believed to account for much lower malaria sicknesses and deaths, accounting for the historic ability of Tharus to survive in areas with heavy malaria infestation, where others could not.
The beta form of thalassemia is particularly prevalent among Mediterranean peoples and this geographical association is responsible for its naming: Thalassa (θάλασσα) is the Greek word for sea and Haema (αἷμα) is the Greek word for blood. In Europe, the highest concentrations of the disease are found in Greece, coastal regions in Turkey (particularly the Aegean Region such as Izmir, Balikesir, Aydin, Mugla, and Mediterranean Region such as Antalya, Adana, Mersin), in parts of Italy, particularly Southern Italy and the lower Po valley. The major Mediterranean islands (except the Balearics) such as Sicily, Sardinia, Malta, Corsica, Cyprus, and Crete are heavily affected in particular. Other Mediterranean people, as well as those in the vicinity of the Mediterranean, also have high rates of thalassemia, including people from West Asia and North Africa. Far from the Mediterranean, South Asians are also affected, with the world’s highest concentration of carriers (16% of the population) being in the Maldives.
The thalassemia trait may confer a degree of protection against malaria, which is or was prevalent in the regions where the trait is common, thus conferring a selective survival advantage on carriers (known as heterozygous advantage), thus perpetuating the mutation. In that respect, the various thalassemias resemble another genetic disorder affecting hemoglobin, sickle-cell disease.
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