1/20. Cardiac dysfunction because of secondary hemochromatosis caused by congenital non-spherocytic hemolytic anemia.Most patients diagnosed with secondary hemochromatosis have had repeated blood transfusions. Cardiac failure accounts for approximately one-third of the deaths associated with hemochromatosis. liver dysfunction or hormonal disorders such as diabetes generally precede cardiac failure. A 23-year-old woman with hemochromatosis had, despite significant left ventricular dysfunction, liver function within the normal range on biochemical evaluation. She was treated for congestive heart failure and given desferoxamine intravenously. She did not have primary hemochromatosis, and had not received multiple blood transfusions or iron supplement. As a child the patient had been diagnosed with congenital non-spherocytic hemolytic anemia not requiring transfusion; thus, this is a unique case of secondary hemochromatosis.- - - - - - - - - - ranking = 1keywords = hemolytic (Clic here for more details about this article) |
2/20. Noniatrogenic haemochromatosis in congenital dyserythropoietic anaemia type II is not related to C282Y and H63D mutations in the HFE gene: report on two brothers.BACKGROUND: The discovery of the gene responsible for most cases of hereditary haemochromatosis has made it possible to evaluate the role of this gene in iron accumulation in other conditions. Previous observations in patients with various inherited anaemias are suggestive of a role of the haemochromatosis gene in the noniatrogenic form of iron overload that may occur in these conditions. methods: We studied two brothers with congenital dyserythropoietic anaemia type II, presenting with marked noniatrogenic iron overload. Young age, familial occurrence, concordance of iron overload, and histology were all suggestive of a genetic basis for the iron overload. A search for C282Y, H63D, S65C, and IVS3 1G?T mutations was performed by polymerase chain reaction after extraction of genomic dna from whole blood. RESULTS: A search for the C282Y, H63D, S65C, and IVS3 1G?T mutations in the HFE gene proved to be negative. Despite the existence of ineffective erythropoiesis with mild anaemia, both patients were treated with regular phlebotomies in order to prevent long-term complications of their iron-overload. This treatment was well tolerated. CONCLUSIONS: 1. C282Y, H63D, S65C, and IVS3 1G?T mutations were negative in two brothers with congenital dyserythropoietic anaemia, in whom young age, familial occurrence, concordance of iron overload, and the histological pattern were all suggestive of hereditary haemochromatosis. 2. Treatment with regular phlebotomies, in order to prevent complications of iron overload, was well tolerated despite the existence of mild haemolytic anaemia.- - - - - - - - - - ranking = 6.747735647534keywords = anaemia (Clic here for more details about this article) |
3/20. Sideroblastic anaemia associated with iron overload treated by repeated phlebotomy.iron overload with prominent skin pigmentation and hepatic parenchymal siderosis is reported in a patient with refractory sideroblastic anaemia. Failure to reverse the sideroblastic changes or the anaemia with conventional therapy prompted us to use a graded phlebotomy programme. The rising haemoglobin level in spite of repeated venesections is support for this approach in selected patients with this diagnosis.- - - - - - - - - - ranking = 4.4984904316893keywords = anaemia (Clic here for more details about this article) |
4/20. Congenital dyserythropoietic anaemia type II (HEMPAS) and haemochromatosis: a report of two cases.We describe two patients with severe iron overload in the context of congenital dyserythropoietic anaemia (CDA) type II, which is characterized by a protein glycosylation defect with impairment of N-glycan synthesis. In both patients a corpuscular, haemolytic anaemia had been diagnosed in early childhood and both patients underwent splenectomy before the age of 9 years. They developed clinical manifestations of haemochromatosis and only re-evaluation during adulthood led to the correct diagnosis. Abnormal glycosylation of proteins involved in iron homeostasis is likely to contribute to the massive hepatic iron accumulation characteristic for CDA type II. Both patients required chelation therapy. This report points out the need to consider CDA in patients presenting with haemochromatosis and anaemia.- - - - - - - - - - ranking = 5.2482388369709keywords = anaemia (Clic here for more details about this article) |
5/20. Coeliac disease and hereditary haemochromatosis: association and implications.Coeliac disease and hereditary haemochromatosis are genetic disorders paradoxically associated with altered intestinal absorption of iron. Hereditary haemochromatosis is the most common autosomal recessive disease in the Caucasian population and is characterised by an iron overload state. Coeliac disease, or gluten sensitive enteropathy, on the other hand is frequently associated with iron deficiency anaemia. We report the cases of two patients who developed both coeliac disease and hereditary haemochromatosis. We review the literature of this rare association and examine how the clinical presentation is modified by their co-existence and the potential genetic linkage of these two disorders.- - - - - - - - - - ranking = 0.74974840528155keywords = anaemia (Clic here for more details about this article) |
6/20. An unusual case of ulcerative colitis with concurrent extraintestinal manifestations of primary sclerosing cholangitis, thromboembolism, hemolytic anemia, and hemochromatosis.Inflammatory bowel disease (IBD) is a chronic inflammatory disorder of intestines associated with a large number of extraintestinal manifestations (EIMs) which significantly contribute to its morbidity and mortality. A 32-year-old man presented with ulcerative colitis (UC) accompanied by the unusual coexisting clinical manifestations of primary sclerosing cholangitis, thromboembolism, and hemolytic anemia during the disease course. The incidental finding of hemochromatosis of the liver was attributed to chronic hemolysis. The full-blown EIMs and systemic complications in this patient did not appear to be attributable to drug treatment and/or infection but might have been related to both the underlying immune-mediated mechanism and the lack of early and adequate treatment for UC and its associated complications. This case emphasizes the need for early and aggressive treatment of IBD accompanied by EIMs to avoid morbidity and mortality.- - - - - - - - - - ranking = 1keywords = hemolytic (Clic here for more details about this article) |
7/20. hemochromatosis and pyruvate kinase deficiency. Report of a case and review of the literature.hemochromatosis has been reported in several patients with chronic hemolytic anemia due to pyruvate kinase deficiency. We describe here a further patient with such an association and review the literature on the subject. We hypothesize that iron overload may occur in patients with pyruvate kinase deficiency who are also carriers of the hereditary hemochromatosis gene.- - - - - - - - - - ranking = 0.2keywords = hemolytic (Clic here for more details about this article) |
8/20. Oysters, iron overload and vibrio vulnificus septicaemia.A case of vibrio vulnificus septicaemia complicated by cutaneous leg ulceration is described. A 74 year old man with haemochromatosis and sideroblastic anaemia developed an acute febrile illness with cutaneous manifestations 24 hours after ingesting raw oysters. The presence of blistering should be considered an important clue to the diagnosis of vibrio vulnificus septicaemia, and this can facilitate prompt effective antimicrobial therapy. Clinicians should be aware of this infection because of its high case fatality rate, especially in patients with iron overload states.- - - - - - - - - - ranking = 0.74974840528155keywords = anaemia (Clic here for more details about this article) |
9/20. Iron loading anaemias.Iron loading anaemias are characterized by anaemia, high serum iron, transferrin saturation and ferritin values, and haemosiderin deposits in parenchymal cells and reticuloendothelial tissue with or without organ dysfunction. Sideroblastic anaemias and congenital dyserythropoietic anaemias (CDA) are important types of iron loading anaemias. Two cases of sideroblastic anaemia and five cases of CDA type I are presented as prototypes of iron loading anaemias. Increased gastrointestinal absorption of iron remains the main mechanism of iron loading in these anaemias. phlebotomy can be used to reduce the iron load in those with mild or moderate anaemia, whereas desferrioxamine can be used to chelate excessive iron in all cases irrespective of severity of anaemia.- - - - - - - - - - ranking = 10.496477673942keywords = anaemia (Clic here for more details about this article) |
10/20. hemochromatosis caused by excessive vitamin iron intake.Rare cases of hemochromatosis have been reported in patients who underwent prolonged oral iron therapy for hemolytic anemia or prolonged self-treatment with iron pills. A proportionately large segment of the South African Bantu tribe, who ingest large quantities of an alcoholic beverage brewed in iron pots, are found to have the disease. Reports of health fadists developing hemochromatosis due to excessive dietary iron intake, however, are extremely rare. This report presents clinical considerations and pathologic findings in a compulsive health fadist who consumed large numbers of vitamins containing iron. Clinical findings included the development and progression of cirrhosis of the liver, bronzing of the skin, and diabetes mellitus, all consistent with a diagnosis of hemochromatosis. light microscopy of liver biopsies taken late in the course of the disease revealed a massive buildup of iron in the hepatocytes, less in the kupffer cells, and sparse deposition in the epithelial cells of the bile duct. Minimal periportal fibrosis was noted. Electron microscopy showed numerous pleomorphic siderosomes with varying degrees of crystallization and ferritin attached at uniform intervals to the membranes of residual bodies. Abundant free ferritin was observed in most cells. The aggregated and membrane-associated ferritin was verified by non-dispersive x-ray analysis. An additional finding, noted only by electron microscopy, was the presence of many fat-storing cells of Ito, which are thought to be involved in the onset of fibrosis.- - - - - - - - - - ranking = 0.2keywords = hemolytic (Clic here for more details about this article) |
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