Phenotype #0000067725

Individual ID 00088255
Associated disease HFE5
Phenotype details Female patient (56y) admitted to hospital for examination of early gastric cancer. Hepatic CT: 92 units. T2-weighted MRI showed low intensity signal of liver, heart and bone marrow. Serum ferritin 1,654 μg/l; serum Fe 156 μg/dl; transferrin saturation 58%; TIBC 269 μg/dl. Histology of liver biopsy showed heavy iron deposition in most hepatocytes and some Kupffer cells. Histology of splenectomy specimen showed gross iron deposition in macrophages. Hepatic iron concentration was not measured and venesection was not performed.
Diagnosis/Initial -
Inheritance Familial, autosomal dominant
Diagnosis/Definite -
Age/Examination 56y (56 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2016-11-25 13:42:54 +01:00 (CET)
Date last edited N/A

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