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GASTRIC IRON BINDING SUBSTANCE (GASTROFERRIN) IN A FAMILY WITH HÆMOCHROMATOSIS
Author(s) -
DELLER D. J.,
EDWARDS R. G.,
DART G.,
LUKE C. G.,
DAVIS P. S.
Publication year - 1969
Publication title -
australasian annals of medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.596
H-Index - 70
eISSN - 1445-5994
pISSN - 0571-9283
DOI - 10.1111/imj.1969.18.1.36
Subject(s) - transferrin , pathogenesis , transferrin saturation , medicine , siderosis , endocrinology , iron deficiency , chemistry , anemia
SUMMARY A family study was undertaken to obtain further evidence for a possible role of a deficiency of gastric iron binding substance (gastroferrin) in the pathogenesis of hæmochromatosis. Various studies of iron metabolism were performed on a patient with the disease and 35 relatives. Judged by elevation of the serum iron level, the saturation of the plasma transferrin and the increased urinary iron excretion after D.T.P.A. administration, two brothers, two nephews and one niece of the propositus had iron overload. One of the brothers had alcoholic cirrhosis with secondary siderosis of the liver; the level of gastric iron binding substance in his case was normal. The remaining relatives with iron overload had an absence or marked reduction in the amount of gastroferrin. Current concepts of the mechanism of iron absorption in health, and of the pathogenesis of hæmochromatosis, are reviewed. A chelation theory of the luminal control of iron absorption is proposed, and the possible role of gastroferrin deficiency in the retiology of hæmochromaiosis discussed. The thesis presented is that hæmochromatosis might be an inborn error of metabolism in which the genetic defect consists of failure to produce the gastric inhibitory iron binding substance. The results reported in this study are compatible with this hypothesis, and suggest the value of a prospective study of children lacking gastroferrin to determine whether this defect occurs before evidence of iron overload.