"Although the genetic mutation is equally distributed between men and women, iron loss from menstruation and pregnancy is protective, leading to a clinical male predilection (M:F ~ 2:1) 4. In men, the diagnosis usually becomes evident in middle age (40-49 years), whereas in women, clinical manifestations become evident slightly later (50-59 years) 4."
"type 1c: S65C mutation; increased serum iron and ferritin but no iron overload; clinically insignificant"
"type 2 (juvenile haemochromatosis): mutations in HJV gene (type 2a)or HAMP gene (type 2b) that lead to hepcidin deficiency"
"Bantu siderosis: rare cause in Africa due to iron-laden locally brewed beer"
Expected headings
"Hereditary (primary) haemochromatosis"
"Secondary haemochromatosis"
"Diagnosis"
"Quantification"
"Complications"
"The prevalence of C282Y homozygosity is estimated at 0.25-1% in persons of European ancestry (particularly Irish and Scandinavian) in North America, Europe, and Australia, making haemochromatosis one of the most common genetic disorders in this population 4,8,9. However, clinical penetrance is limited (~30%; range"
"type 1: most common; related to HFE gene mutations that reduce hepcidin production"
"type 1a: homozygous C282Y mutation; most common (~90%) and clinical significant"
"type 1b: compound heterozygote (C282Y/H63D); elevated transferrin saturation and serum ferritin with clinically significant iron overload is rare unless co-morbidities such as hepatitis C infection or alcohol use are present"
"type 1c: S65C mutation; increased serum iron and ferritin but no iron overload; clinically insignificant"
"type 1c: S65C mutation; increased serum iron and ferritin but no iron overload; clinically insignificant"
"type 4a (ferroportin disease): autosomal dominant; normal hepcidin but reduced ferroportin function"
"General visceral features of haemochromatosis are increased organ density (CT) and reduced organ signal intensity (MRI). Secondary imaging features include hepatomegaly, cirrhosis and signs of heart failure."
"In hereditary haemochromatosis, splenic and bone marrow signal is typically normal, and low pancreatic signal is usually seen only with cirrhosis."