Porphyria cutanea tarda and beta‐thalassaemia major: causal or casual?

Abstract

EditorPorphyria cutanea tarda (PCT) is the most common type of porphyria worldwide and is classified in three categories: sporadic type I, familial type II and the extremely rare type III. 1 Many predisposing factors have been associated with the clinical manifestation of PCT. Amongst them well recognized are: alcohol abuse, oestrogen replacement therapy, iron overload, haemodialysis, viral infections (hepatitis C, hepatitis B, HIV virus), exposure to polychlorinated hydrocarbons and inherited mutations in the HFE gene concerning classic haemochromatosis. 2-4 Beta thalassaemia major (TM) is a clinical entity with a wide spectrum of clinical manifestations as a result of life-long transfusion-dependent anaemia. Interestingly, patients suffering TM manifest several of PCT's predisposing factors as a result of their underlying disease ª

A new UROD mutation in childhood porphyria cutanea tarda after allogeneic stem cell transplantation for β‐thalassemia major

“…Transfusion is the standard of care and aggravates iron overload. Blood‐born infections and iron overload are likely conditions in thalassemia patients …”