Thalassaemia
Antonis Kattamis, Janet L Kwiatkowski, Yesim Aydinok

Thalassaemia is a diverse group of genetic disorders with a worldwide distribution affecting globin chain synthesis.
The pathogenesis of thalassaemia lies in the unbalanced globin chain production, leading to ineffective erythropoiesis,
increased haemolysis, and deranged iron homoeostasis. The clinical phenotype shows heterogeneity, ranging from
close to normal without complications to severe requiring lifelong transfusion support. Conservative treatment with
transfusion and iron chelation has transformed the natural history of thalassaemia major into a chronic disease with
a prolonged life expectancy, albeit with co-morbidities and substantial disease burden. Curative therapy with allogeneic
haematopoietic stem cell transplantation is advocated for suitable patients. The understanding of the pathogenesis
of the disease is guiding therapeutic advances. Novel agents have shown efficacy in improving anaemia and
transfusion burden, and initial results from gene therapy approaches are promising. Despite scientific developments,
worldwide inequality in the access of health resources is a major concern, because most patients live in underserved
areas. (διαβάστε περισσότερα)