Summary
A 55-year-old Chinese woman is described with severe iron overload similar in degree and distribution to that seen in hereditary hemochromatosis in the Causasian population. Autopsy findings confirmed severe iron overload in the liver, pancreases, skin, heart, and endocrine organs. Hepatic iron concentration was 482 μmol/g with a hepatic iron index of 8.8. There was no history of thalassemia, transfusions, or alcohol abuse. Pedigree analysis revealed two HLA identical brothers that had no clinical or biochemical evidence of iron overload. This case is an unsual example of severe iron overload in a non-Causasian kindred and may represent a non-HLA-linked form of iron overload.
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References
Yaouanq J, Perichon M, Chorney M, et al: Anonymous marker loci within 400 kb of HLA-A generate haplotypes in linkage disequilibrium with the hemochromatosis gene (HFE). Am J Hum Genet 54:252–263, 1994
Edwards CQ, Griffen LM, Goldgar D, et al: Prevalence of hemochromatosis among 11,065 presumably healthy donors. N Engl J Med 318:1355–1362, 1986
Sheldon JH: Haemochromatosis. London, Oxford University Press, 1935
Simon, M, Bourel, M, Genetet B, et al: Idiopathic hemochromatosis: Demonstration of recessive inheritance and early detection by family HLA typing. N Engl J Med 297:1017–1021, 1977
Le Mignon L, Simon M, Fauchet R, et al: A HLA-A11 association with the hemochromatosis allele. Clin Genet 24:171–176, 1983
Summers KM, Tam KS, Halliday JW, Powell LW: HLA determinants in an Australian population of hemochromatosis patients and their families. Am J Hum Genet 45:41–48, 1989
Hsu HC, Lin CK, Tsay SH, et al: Iron overload in Chinese patients with hemoglobin H disease, Am J Hematol 34:287–290, 1990
Shan YD, Zhu WL, Zhang ZN: Hemochromatosis: A review of 22 Chinese cases. Chung Hua Nei Ko Tsa Chih 29:155–157, 1990
Lin CK, Peng HW, Ho CH, Yung CH: Iron overload in untransfused patients with hemoglobin H disease. Acta Hematol 83:137–139, 1990
Ludwig J, Batts K, Moyer T, et al: Liver biopsy diagnosis of homozygous hemochromatosis: A diagnostic algorithm. Mayo Clin Proc 68:263–267, 1993
Summer KM, Halliday JW, Powell LW: Identification of homozygous hemochromatosis subjects by measurement of hepatic iron index. Hepatology 12:20–25, 1990
Adams PC: Hepatic iron in hemochromatosis. Dig Dis Sci 35:690–692, 1990
Powel LW, Summers KM, Board PG, Axelsen E, Webb S, Halliday JW: Expression of hemochromatosis in homozygous subjects: Implications of early diagnosis and prevention. Gastroenterology 98:1625–1632, 1988
Adams PC: Hemochromatosis and red cell aplasia. Am J Hematol 45:260–261, 1994
Eason RJ, Adams PC, Aston CE, Searle J: Familial iron overload with possible autosomal dominant inheritance. Aust NZ Med J 20:226–230, 1990
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Oliver, M., Scully, L., Guiraudon, C. et al. Non-HLA-linked hemochromatosis in a Chinese woman. Digest Dis Sci 40, 1589–1591 (1995). https://doi.org/10.1007/BF02285215
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DOI: https://doi.org/10.1007/BF02285215