Coinheritance of alleles associated with hemochromatosis and hereditary hyperferritinemia-cataract syndrome.
نویسندگان
چکیده
Genet 34:275, 1997 5. Gordeuk V, Mukiibi J, Hasstedt SJ, Samowitz W, Edwards CQ, West G, Ndambire S, Emmanuel J, Nkaza N, Chapanduka Z, Randall M, Boone P, Romano P, Martell RW, Yamashita T, Effler P, Brittenham G: Iron overload in Africa. Interaction between a gene and dietary iron content. N Engl J Med 326:95, 1992 6. Expert Scientific Working Group: Summary of a report on assessment of the iron nutritional status of the United States population. Am J Clin Nutr 42:1318, 1984
منابع مشابه
A Novel Phenotype of a Hereditary Hemochromatosis Type 4 with Ferroportin-1 Mutation, Presenting with Juvenile Cataracts.
Hereditary hemochromatosis (HH) is an inherited disorder usually seen in Northern Europeans, which results in iron overload syndrome. A few cases have also been reported in Japan. We herein report a Japanese man presenting with fever, arthritis, liver dysfunction, and hyperferritinemia who was diagnosed with type 4 HH. He was heterozygous for the 1520A>G (His507Arg) mutation in the ferroportin-...
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Hyperferritinemia and bilateral cataracts are features of the rare hereditary hyperferritinemia cataract syndrome (HHCS; OMIM #600886). HHCS is an autosomal dominant condition caused by mutations which increase expression of the ferritin light polypeptide (FTL) gene. We report a patient with HHCS who was misdiagnosed and treated as having hemochromatosis, in whom a heterozygous c.-160A>G mutati...
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Recently, we described a new genetic disorder (the "hereditary hyperferritinemia-cataract syndrome") clinically characterized by the combination of elevated serum ferritin and congenital bilateral nuclear cataract, both cotransmitted as an autosomal dominant trait. In affected subjects, hyperferritinemia (ranging from 950 to 2,259 micrograms/L) is typically not related to iron overload. Differe...
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ورودعنوان ژورنال:
- Blood
دوره 92 11 شماره
صفحات -
تاریخ انتشار 1998