Hereditary haemochromatosis: a tale of eight siblings.
Hereditary haemochromatosis (HH) is an autosomal recessive condition in which inappropriately excess iron absorption from the intestine results in pathological deposition of iron in the parenchymal cells of organs leading to tissue damage associated with characteristic arthropathy. It is an important cause of joint pain in middle age and early diagnosis and treatment can reduce the long-term complications of the disease.
Pande
Shrikant D
SD
Changi General Hospital, Singapore. shrikantpande@yahoo.co.uk
Ariyaratnam
Rajkumar
R
Burke
Michael J
MJ
D001706:Biopsy; D003937:Diagnosis, Differential; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods; D006432:Hemochromatosis / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007501:Iron / Q000097:blood*; D008099:Liver / Q000473:pathology; D008297:Male; D008875:Middle Aged; D035781:Siblings; D014168:Transferrin / Q000378:metabolism
D014168:Transferrin; D007501:Iron