[1 month, 1 rare disease, 1 organization] Thalassemia

Every month, BlueDil focus on a different rare and severe disease.


Rare disease of this month: thalassemia.

Thalassaemia is a disease of the blood, more precisely of the haemoglobin, which affects red blood cells. It is a genetic disease that is transmitted by both parents (healthy carriers of the genetic abnormality). More present in certain geographical areas (North Africa, Mediterranean Basin, Asia) it is thought that its appearance coincides with the presence of malaria.


How is the disease manifested?

The gene that programmes the production of haemoglobin will produce haemoglobin in very small quantities and inefficiently. There are several forms of thalassaemia. The minor forms are normally asymptomatic.
In the intermediate and major forms, hemoglobin is produced in insufficient quantity, which will result in very severe anemia that will be fatal if untreated.

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