Summary
The frequency of HLA-A3 and HLA-B14 antigens was found to be significantly (P=<0.0001) higher in a series of 50 unrelated and unselected Swedish patients with idiopathic hemochromatosis (IH) than in controls, being 66% and 32% for A3 and 22% and 2% for B14. The haplotype A3B14 was associated with the highest risk in this material (relative risk 23.4). One family with this haplotype was traced back to the end of the seventeenth century. The pattern of HLA antigens associated with IH in Sweden shows remarkable similarity to those reported from England and Brittany.
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Beaumont C, Simon M, Fauchet R, Hespel J-P, Brissot P, Genetet B, Bourel M (1979) Serum ferritin as a possible marker of the hemochromatosis allele. N Engl J Med 301:169–174
Bomford A, Eddleston ALWF, Kennedy LA, Batchelor JR, Williams R (1977) Histocompatibility antigens as markers of abnormal iron metabolism in patients with idiopathic hemochromatosis and their relatives. Lancet 1:327–329
Bothwell TH, Charlton RW, Motulsky AG (1983) Idiopathic hemochromatosis. In: The metabolic basis of inherited disease. McGraw-Hill Book Co, New York, pp 1276–1279
Böyum A (1968) Separation of leukocytes from blood and bone marrow. Scand J Clin Invest 21:109
Cartwright GE, Edwards CQ, Kravitz K, Skolnick M, Amos DB, Johnson A, Buskjaer L (1979) Hereditary hemochromatosis. Phenotypic expression of the disease. N Engl J Med 301:175–179
Doran TJ, Bashir HV, Trejaut J, Basett ML, Halliday JW, Powell LW (1981) Idiopathic hemochromatosis in the Australian population: HLA linkage and recessivity. Hum Immunol 2:191–200
Dyrska H, Eberhardt G, Eckert G (1979) The distribution of HLA antigens in German patients with idiopathic hemochromatosis. Klin Wochenschr 57:529–531
Edwards CQ, Cartwright GE, Skolnick MH, Amos DB (1980) Homozygosity for hemochromatosis: clinical manifestations. Ann Intern Med93:519–525
Edwards CQ, Skolnick MH, Kushner JP (1981) Hereditary hemochromatosis: contributions of genetic analyses. Prog Haematol 12:43–71
Edwards CQ, Dadone MM, Skolnick MH, Kushner JP (1982) Hereditary hemochromatosis. Clin Haimatol 11:411–435
Henke J, Ungar W (1978) HLA antigens in idiopathic hemochromatosis. Preliminary report. Z Immun Forsch 154:41–43
Högman CF, Kissmeyer-Nielsen F, Lindblom JB, Svejgaard A, Thorsby E (1972) Human histocompatibility matching. 1. Probability calculations in 5044 HLA phenotypes based on haplotype frequencies in a Scandinavian population. Almqvist and Wiksell, Stockholm
Kissmeyer-Nielsen F, Kjerbye KE (1967) Lymphocytotoxic microtechnique. Purification of lymphocytes by floration. In: Histocompatibility testing. Munksgaard, Copenhagen, pp 381–383
Kravitz K, Skolnick M, Cannings C, Carmelli D, Baty B, Amos B, Johnson A, Mendahl N, Edwards G, Cartwright G (1979) Genetic linkage between hereditary hemochromatosis and HLA. Am J Genet 31:601–619
Kühnl P, Kaltwasser JP, Seidl S (1978) HLA antigens in patients with idiopathic hemochromatosis. Tissue Antigens 12:398–401
Laukens P, Versick J, De Potter E, Barbier F (1978) Association of HLA antigens with idiopathic hemochromatosis. Gastroenterology 74:1351
Lipinski MJ, Hors J, Salaeun R, Saddi R, Passa P, Lafaurice S, Feingold N, Dousset J (1978) Idiopathic hemochromatosis: linkage with HLA. Tissue Antigens 11:471–474
Lloyd DA, Adams P, Sinclair NR, Stiller CR, Valberg LS (1978) Histocompatibility antigens as markers of abnormal iron metabolism in idiopathic hemochromatosis. CMA J 119:1051–1056
Lundholm I (1939) Hereditary hypochromic anemia. Acta Med Scand [Suppl] 102
Lundvall O, Weinfeld A, Lundin P (1969) Iron stores in alcohol abusers. I. Liver iron. Acta Med Scand 185:259–269
McCarthy D, Firzgerald GA, O'Conell LG, Walters JM, Watt DW, Stevens FM, McCarthy CF (1979) Histocompatibility antigens and hemochromatosis in Ireland. Ir J Med Sci 148:168–172
Milman N (1983) Primaer haemokromatose. Ugeskr Laeger 145: 16–18
Motulsky AG (1979) Genetics of hemochromatosis. N Engl J Med 301:1291
Olsson KS, Heedman PA, Staugård F (1978) Preclinical hemochromatosis in a population on a high iron fortified diet. JAMA 239:1999–2000
Olsson KS, Ritter B, Rosén U, Heedman PA, Staugård F (1983) Prevalence of iron overload in central Sweden. Acta Med Scand 213:145–150
Olsson KS, Eriksson K, Ritter B, Heedman PA (1984) Screening for iron overload using transferrin saturation. Acta Med Scand 215:105–112
Shewan WG, Monat SA, Allan TM (1976) HLA antigens in hemochromatosis. Br Med J 1:281–282
Simon M, Pawlotsky Y, Bourel M, Fauchet R, Genetet B (1975) Hémochromatose idiopathique: maladie associée à l'antigène tissurlaire HL-A3? Nouv Presse Med 4:1432
Simon M, Bourel M, Fauchet R, Genetet B (1976) Association of HLA-A3 and HLA-B14 antigens with idiopathic hemochromatosis. Gut 17:332–334
Simon M, Alexandre J-L, Bourel M, Le Marec B, Scordia C (1977a) Heredity of idiopathic hemochromatosis: a study of 106 families. Clin Genet 11:327–341
Simon M, Bourel M, Genetet B, Fauchet R (1977b) Idiopathic hemochromatosis: demonstration of recessive transmission and early detection by family HLA typing. N Engl J Med 297:1017–1021
Simon M, Alexandre J-L, Fauchet R, Genetet B, Bourel M (1980a) The genetics of hemochromatosis. In: Progress in medical genetics, vol IV. Saunders, Philadelphia, pp 135–168
Simon M, Fauchet R, Hespel J-P, Beaumont C, Brissot P, Hery B, Nercy Y, Genetet B, Bourel M (1980b) Idiopathic hemochromatosis: a study of biochemical expression in 247 heterozygous members of 63 families: evidence for a single major HLA-linked gene. Gastroenterology 78:703–708
Svejgaard A, Jersild C, Staub-Nielsen L, Bodmer WF (1974) HLA and disease. Statistical and genetical considerations. Tissue Antigens 4:95–105
Walters JM, Watt PW, Stevens FM, McCarthy CF (1975) HLA antigens in hemochromatosis. Br Med J 4:520
Woolf B (1955) On estimating the relation between blood group and disease. Ann Hum Genet 19:251–253
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Ritter, B., Säfwenberg, J. & Olsson, K.S. HLA as a marker of the hemochromatosis gene in Sweden. Hum Genet 68, 62–66 (1984). https://doi.org/10.1007/BF00293874
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DOI: https://doi.org/10.1007/BF00293874