نتایج جستجو برای: hemochromatosis
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In pernicious anemia and hemochromatosis an iron-containing pigment, hemosiderin, ordinarily derived from hemoglobin, is deposited in organs free from such pigment in most conditions that involve blood destruction. When sudden hemolysis takes place in a previously healthy human being, as after cutaneous burns or the action of a "blood poison," hemosiderin granules appear in the spleen, the red ...
The term ‘hemochromatosis’ was first used by von Recklinghausen, a German pathologist in the late 1800s [1]; he determined that the pigmentation seen in patients with advanced hemochromatosis was due to iron. In 1935, Joseph Sheldon, a British geriatrician, published a monograph describing over 300 patients with hemochromatosis [2]. He concluded that the disorder was an inherited defect with al...
Herein is described the case of a young woman presenting with iron overload and macrocytosis. The initial diagnosis was hereditary hemochromatosis. Severe anemia developed after a few phlebotomies, and she was also found to have congenital dyserythropoietic anemia that, though not completely typical, resembled type II. Only genetic testing allowed the definition of the coexistence of the 2 dise...
Juvenile hemochromatosis is an early-onset form of iron storage disease characterized by hypogonadotrophic hypogonadism and cardiomyopathy. Recently, the putative causative gene (LOC148738) encoding a protein designated hemojuvelin was cloned. The previously proposed designation of this gene as HFE2 is contrary to established convention, because it is not a member of the HFE family. We suggest ...
BACKGROUND Juvenile hemochromatosis is the most severe form of iron overloading phenotype. Although rare, it should be suspected in patients who present with hypogonadotropic hypogonadism, diabetes mellitus, or cardiomyopathy without a clear cause. CASE PRESENTATION A young Serbian male presenting with end-stage heart failure was referred for extracorporeal membrane oxygenation. An endomyocar...
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