No abstract available.
Hemochromatosis* ; Spleen*

Hemochromatosis is a hereditary or acquired chronic iron overload syndrome that presents with organ damage to the liver, pancreas, heart, joints and skin due to pathologic iron deposition. Hereditary hemochromatosis is a common genetic disorder with human hemochromatosis protein (HFE) mutations found in European ethnic groups but has low-prevalence in the Asian population. Secondary or acquired hemochromatosis may result from ineffective erythropoiesis, liver disease and parenteral iron overload. A 51-year-old Filipino woman presented with generalized hyperpigmentation associated with severe anemia and hepatomegaly. Laboratory investigation revealed a markedly elevated serum ferritin (>2,000 g/L, 10x the normal) and hepatic aminotransferases (6x elevated). Magnetic resonance imaging (MRI) T2-weighted images revealed hypotense signal of the liver with the magnetic susceptibility measurement (MSM) of iron at 12.297 mg/g indicating severe iron overload. Dermatopathology findings revealed hyperpigmented epidermis with hemosiderin found in the basal keratinocytes as well as around cutaneous adnexal structures. Special stain with Perls’ Prussian blue revealed iron granules that are seen as blue pigments in the epidermis and dermis. Treatment with the oral iron chelator deferiprone (DFP) showed improvement. However, the patient developed hospital-acquired sepsis, deteriorated, and eventually died.
Hemochromatosis ; Iron

No abstract available.
Blood Transfusion ; Headache ; Hemochromatosis

No abstract available.
Hemochromatosis* ; Humans ; Renal Dialysis*

Gilbert Disease ; Hemochromatosis ; Humans

No abstract available.
Hemochromatosis ; Humans ; Infant

Objective: To determine if the CD14/-159 and the TNFα/-308 single nucleotide polymorphisms (SNPs) are associated with the development of Idiopathic Neonatal Hepatitis (INH) in Filipino children. Methods: Genomic DNA from 33 patients diagnosed with INH and 33 age- and sex-matched controls, children without any liver disease, were recruited. Baseline serum total bilirubin (TB), direct bilirubin (DB), and alkaline phosphatase (ALP) of the patients were obtained from their medical records. Genotypes for CD14/159 and TNFα/-308 were determined via PCR and direct sequencing. Results: No significant difference was seen between the frequency of the CD14/-159 T allele (p=0.86) nor the TNFα/-308 A allele (p=0.62) between INH patients and controls. There was also no significant difference between the genotypic distribution of the INH and control populations for both CD14/-159 (p=0.54) and TNFα/-308 (p=0.62). There were also no significant differences noted between the different genotypes of CD14/159 and TNFα/-308 and levels of alkaline phosphatase (p=0.65, p=0.91), total bilirubin (p=0.89, p=0.75), and direct bilirubin (p=0.93, p=0.68). Conclusion In this preliminary study, CD14/-159 and TNFα/-308 showed no association with the development of INH among Filipinos.
Polymorphism, Genetic ; Neonatal hemochromatosis

OBJECTIVETo identify the type of iron deposition and describe its amount, distribution and associated lesions, in order to support an etiologic diagnosis for hemochromatosis.

METHODSHematoxylineosin (HE) stain, reticular fiber stain, Masson's stain and Perl's iron stain were used to assess liver biopsies from 31 patients with hemochromatosis. The Ishak scoring system and Deugnier scoring system were used to assess the histological change in liver and to semi-quantify the excess of hepatic iron. Genetic testing results were received from a portion of the patients and used in analysis.

RESULTSOne patient had hereditary (-HFE) hemochromatosis complicated with Gilbert's syndrome, for which the pattern of iron deposition was similar to that of the four patients with Gilbert's syndrome. Iron accumulation appeared as fine granules predominating at the biliary pole of cells and was distributed throughout the lobule with a decreasing gradient spanning from the periportal to centrolobular areas. Mild chronic inflammation was found to be commonly associated with low stage fibrosis.One patient had HFE hemochromatosis complicated with hepatitis B virus infection, and the pattern of iron deposition resembled that in the eight patients with viral hepatitis, wherein the deposition was mainly in the sinusoidal cells and/or portal macrophages. Histological grading and fibrosis staging differed among patients. The five patients with blood disordered showed iron accumulation mainly in the periportal hepatocytes, but mesenchymal iron deposits were also present. The grade of inflammation, as well as of fibrosis,was mild. The five patients with alcoholic disease and the five patients with drug-induced hepatitis showed hepatic iron deposition in swollen or ballooned hepatocytes. The two patients with excessive iron supply showed iron deposition localized within the parenchymal and mesenchymal cells.

CONCLUSIONEtiologic diagnosis of hemochromatosis relies on both the type of iron deposition and the nature of associated lesions. Liver biopsy is necessary for both diagnosis and prognosis.

Hemochromatosis ; metabolism ; Humans ; Iron Overload ; Liver ; metabolism ; Male ; Middle Aged

Adult ; Hemochromatosis ; etiology ; Hepatitis B, Chronic ; complications ; Humans ; Male