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1.
Intern Med ; 44(9): 990-3, 2005 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-16258219

RESUMO

Ferroportin disease, autosomal-dominant reticuloendothelial iron overload, may be more prevalent than hemochromatosis in Japan. Hyperferritinemia of 822 ng/ml with 24.8% transferrin saturation of iron was incidentally noted in a 43-year-old man. His iron overload was selective in Kupffer cells of the liver. Subsequently, his father was found to have asymptomatic hyperferritinemia of 2,283 ng/ml with 62.1% saturation. These affected subjects were heterozygous for 1467A>C (R489S) in SLC40A1, and without other mutations of the hemochromatosis genes. Here, we report a Japanese family with ferroportin disease, characterized by hyperferritinemia with relatively low transferrin saturations of iron.


Assuntos
Proteínas de Transporte de Cátions/genética , Ferritinas/sangue , Sobrecarga de Ferro/sangue , Sobrecarga de Ferro/genética , Ferro/sangue , Mutação de Sentido Incorreto , Transferrina/metabolismo , Adulto , Idoso , Sequência de Aminoácidos , Sequência de Bases , DNA/genética , Feminino , Hemocromatose/sangue , Hemocromatose/genética , Hemocromatose/patologia , Heterozigoto , Humanos , Sobrecarga de Ferro/patologia , Japão , Células de Kupffer/metabolismo , Células de Kupffer/patologia , Fígado/metabolismo , Fígado/patologia , Masculino
2.
J Hepatol ; 43(4): 740-2, 2005 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-16099526

RESUMO

Hemochromatosis is a genetically heterogeneous condition. Mutations in the recently described hemojuvelin gene were found in patients with juvenile hemochromatosis, who usually manifest clinical signs of iron overload, including cardiomyopathy and hypogonadism, in their teens and early 20s. In this report, we describe three Japanese patients who showed typical clinical and hepatic histological damage compatible with hemochromatosis at around 50 years of age. Genetic analyses showed that all three patients carried mutations in the hemojuvelin gene. The first patient was homozygous for a novel mutation (745G > C [D249H]), and the second and third patients from the same family were homozygous for another novel mutation (934C > T [Q312X]). No mutations in their HFE, hepcidin, transferrin receptor 2, or ferroportin genes were found. One patient had chronic infection with Helicobacter pylori. The age at initial presentation of hemojuvelin-hemochromatosis occurs over a wider range than previously described.


Assuntos
Hemocromatose/genética , Proteínas de Membrana/genética , Idade de Início , Evolução Fatal , Feminino , Proteínas Ligadas por GPI , Hemocromatose/terapia , Proteína da Hemocromatose , Humanos , Masculino , Pessoa de Meia-Idade , Resultado do Tratamento
3.
Haematologica ; 90(3): 302-7, 2005 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-15749661

RESUMO

BACKGROUND AND OBJECTIVES: The low prevalence of the C282Y mutation of the HFE gene in Japan means that the genetic background of hemochromatosis in Japanese patients remains unclear. In a previous report, we showed that 3 patients from one family had an AVAQ 594-597 deletion of the transferrin receptor (TfR2) gene. This suggests that the TfR2 gene is involved in hemochromatosis in Japanese patients. DESIGN AND METHODS: Nine patients clinically diagnosed with hemochromatosis were included in the study. DNA was extracted from whole blood samples collected with informed consent. The HFE and TfR2 genes were analyzed by sequencing the coding region and splicing sites. RESULTS: There were no mutations in the HFE gene. In the TfR2 gene, 2 novel mutations, 1469T->G (L490R) and 1665delC (V561X), were found in 2 patients. A known variation, 714C-> (I238M), was also found in the patient with L490R. The patient homozygous for both L490R and I238M presented with a mild manifestation of hemochromatosis at the age of 41 years. His liver was cirrhotic with parenchymal iron deposits and the result of a glucose tolerance test was compatible with diabetes mellitus. The patient homozygous for V561X had severe iron overload with the triad of cirrhosis, diabetes mellitus and skin pigmentation at the age of 58 years. INTERPRETATION AND CONCLUSIONS: Taken together with the previous report, 5 of our 12 patients with hemochromatosis manifesting in middle age had mutations in the TfR2 gene. Thus, TfR2 plays a role in the pathogenesis of hemochromatosis in Japan.


Assuntos
Hemocromatose/genética , Mutação de Sentido Incorreto , Receptores da Transferrina/genética , Adulto , Análise Mutacional de DNA , Feminino , Hemocromatose/epidemiologia , Humanos , Japão , Masculino , Pessoa de Meia-Idade , Epidemiologia Molecular
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