Early detection of idiopathic haemochromatosis: relative value of serum-ferritin and HLA typing.
A study of 18 unrelated families with idiopathic haemochromatosis (I.H.C.) was undertaken to define the relative values of HLA typing and serum-ferritin estimation in the early detection of the disease. Sharing of both HLA haplotypes with the proband indicated a high risk of I.H.C. in siblings; but HLA typing was of limited value in detecting affected offspring. Non-identical HLA indicated a low risk of I.H.C. in both siblings and offspring. The presence of HLA A3 was not clinically useful as a marker for I.H.C., since this antigen was also present in 40% of unaffected relatives. In contrast, the serum-ferritin concentration was elevated in 96% of patients with I.H.C. and in only 5% of unaffected relatives. HLA typing provides some indication of the risk of I.H.C. in first-degree relatives, but the combination of serum-ferritin, serum-iron, and transferrin saturation remains the most reliable screening regimen for early diagnosis of I.H.C.
D000293:Adolescent; D000328:Adult; D000368:Aged; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D005293:Ferritins / Q000097:blood*; D006680:HLA Antigens / Q000235:genetics*; D006432:Hemochromatosis / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D007501:Iron / Q000097:blood; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012306:Risk; D013997:Time Factors
D006680:HLA Antigens; D005293:Ferritins; D007501:Iron