Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:P02794 (ferritin)
 17,525 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Unexplained proximal muscle weakness developed in 10 patients on chronic maintenance haemodialysis. Proximal muscle biopsy in 7 patients disclosed iron deposition in muscle fibres and/or macrophages. All 10 patients had severe iron overload (serum-ferritin level > 1000 ng/ml). Since HLA-A3, B7, and B14 antigens are associated with idiopathic haemochromatosis and, therefore, are linked with alleles regulating iron metabolism, HLA type was reviewed in 61 haemodialysis patients, including the 10 myopathic patients. Serum-ferritin levels showed a significant correlation (p<0.001) with the presence of the HLA-antigens. Close relatives of these patients with HLA-antigen-associated iron-overload myopathy did not have raised serum-ferritin levels. Patients on maintenance haemodialysis who have inherited the "haemochromatosis alleles" thus have an increased risk of iron overload and muscle iron deposition.
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PMID:iron-overload-associated myopathy in patients on maintenance haemodialysis: a histocompatibility-linked disorder. 610 46

The hypothesis has been advanced that the two genes on chromosome 6 determining idiopathic hemochromatosis are not identical alleles and therefore that the disease is not recessively inherited, but rather that two different genes are involved. A study of 63 families points to: (a) the rarity with which a single hemochromatosis gene finds biochemical expression (in only 1 of 5 cases), as revealed through determinations of serum iron, serum ferritin and the desferrioxamine test; (b) no difference in HLA-antigen marking between genes with and those without biochemical expression: (c) no difference other than that produced by chance in the biochemical expression of the two genes in families; and (d) the finding in one highly informative family of identical expression of the two genes. It is concluded that idiopathic hemochromatosis is determined by two homologous alleles in accordance with the classical mode of recessive inheritance.
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PMID:Idiopathic hemochromatosis: a study of biochemical expression in 247 heterozygous members of 63 families: evidence for a single major HLA-linked gene. 735 57