Muhad Noorman P, Final year, Team dentowesome

Abnormal accumulation of Iron in Liver , Pancreas and heart causing widespread damage of organs resulting in cirrohsis and diabetes mellitus.

Also known as Celtic Curse or Bronze diabetes

Autosomal recessive transmission due to HEF gene mutation.

Clinical features:-

Male : Female ratio = 10:1. Weaknesses, lethargy, diabetes mellitus, liver cirrohsis , arthralgia, skin hyperpigmentation, impotence, hepatomegaly, hypogonadism.

Lab investigation:- Serum Iron
Transferrin saturation > 45%. Plasma ferritin > 200 ng/ml. Liver biopsy (gold standard) > 1000 MCG/L. DNA Mapping study for gene mutation.

Treatment:- Venesection for all people with Iron biochemical overload. Chelating agents like Desferoxamine can be also taken.

References: DAVIDSONS INTERNAL MEDICINE, INTERNET