RT Journal
T1 HEredity and environment in idiopathic hemochromatosis
JF JAMA
JO JAMA
YR 1969
FD November 3
VO 210
IS 5
SP 898
OP 898
DO 10.1001/jama.1969.03160310086020
UL http://dx.doi.org/10.1001/jama.1969.03160310086020
AB When in 1927 and again in 19351 Sheldon suggested that idiopathic hemochromatosis was attributable to an inborn error of iron metabolism, he based the concept on a small number of cases in which there appeared to be a familial occurrence of this disease. And although the incidence of overt familial involvement subsequently reported by other observers remained small, the genetic etiology found support in the elevated values of serum iron detected in immediate relatives of sufferers from this disease. Liver biopsies studies by Williams and associates2 in families of 16 patients provided additional evidence. In 28 of the 46 relatives examined, biopsy sections gave a positive reaction for free iron, and in a further six cases electron microscopy demonstrated excess of iron.The genetic etiology of idiopathic hemochromatosis was questioned by MacDonald and Mallory,3 who expressed the view that this disease is not a distinct entity but