1/9. 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 = 1keywords = anaemia (Clic here for more details about this article) |
2/9. 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 = 0.66666666666667keywords = anaemia (Clic here for more details about this article) |
3/9. 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 = 0.77777777777778keywords = anaemia (Clic here for more details about this article) |
4/9. 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 = 0.11111111111111keywords = anaemia (Clic here for more details about this article) |
5/9. 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 = 0.11111111111111keywords = anaemia (Clic here for more details about this article) |
6/9. 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 = 1.5555555555556keywords = anaemia (Clic here for more details about this article) |
7/9. iron overload despite partial gastrectomy.iron overload was found in 3 patients who had undergone partial gastrectomy: a 61-year-old woman developed iron overload because she may have had idiopathic haemochromatosis and had also been given parenteral iron; in a 62-year-old man with thalassaemia minor, iron overload may have developed because of increased oral iron ingestion, low serum folate, increased, albeit ineffective, erythropoiesis and sideroblastic anaemia; a 74-year-old man with thalassaemia minor developed iron overload without exogenous therapy and died from a hepatoma. These cases illustrate that partial gastrectomy fails to protect patients from developing iron overload, particularly if given uncontrolled iron therapy.- - - - - - - - - - ranking = 0.11111111111111keywords = anaemia (Clic here for more details about this article) |
8/9. Hereditary ring sideroblastic anaemia and Christmas disease in a Swedish family.The association of hereditary ring sideroblastic anaemia with Christmas disease in a Swedish family is described. We have studied the transmission of the sideroblastic trait, in relation to HLA groups and Christmas disease, and also evaluated the erythrocyte morphology, uroporphyrinogen-I-synthetase activity and S-ferritin for the detection of latent cases of ring sideroblastic anaemia. The proband had ring sideroblastic anaemia, Christmas disease and haemochromatosis. 3 cases of ring sideroblastic anaemia were found among the 12 family members studied. Using the factor ix deficiency as a marker of the x chromosome, it appeared that autosomal transmission of the sideroblastic trait was most likely. The sideroblastic trait did not seem to be linked to HLA-A3-alloantigen. Erythrocyte morphology was normal in all non-anaemic subjects. S-ferritin was found to be increased in all 3 cases of sideroblastic anaemia as well as in 1 non-anaemic relative. Erythrocyte uroporphyrinogen-I-synthetase was elevated in 10 of the 12 family members; those with sideroblastic anaemia had the highest values indicating that uroporphyrinogen-I-synthetase is of importance in the disturbed haem-synthesis of ring sideroblastic anaemia. This interpretation is supported by the positive correlation between S-ferritin values and the uroporphyrinogen-I-synthetase activity.- - - - - - - - - - ranking = 1.2222222222222keywords = anaemia (Clic here for more details about this article) |
9/9. Alcohol induced burr cell (echinocytic) haemolytic anaemia and haemochromatosis.A 51-year-old man with chronic alcoholic liver disease developed a severe haemolytic anaemia characterized by the presence of circulating burr-shaped cells (echinocytes). Several transfusions of packed red cells were ineffective in raising the haemoglobin concentration, showing that the abnormality was acquired by the transfused cells. liver biopsies revealed haemochromatosis. Haematological parameters normalized four months after the patient stopped drinking alcohol, but burr cells were still present and erythrocyte life-span was still markedly shortened at one year follow-up. Since serum cholesterol, hdl-cholesterol, and Apo-AI and Apo-B lipoproteins were considerably decreased, the lipid composition of the red cell membrane was studied. Findings showed that echinocytosis occurred with no change in membrane cholesterol content, nor in cholesterol:phospholipid ratio, but with an alteration in the phosphatidylserine and phosphatidylinositol concentrations. While haemochromatosis was most likely the cause of the erythrocyte anomaly, alcohol intake was probably responsible for the acute onset of haemolytic anaemia with effects directly on the erythrocyte membrane as well as mediated by the progressive hepatic injury, with alterations in the plasma and successively in the intramembrane lipid composition.- - - - - - - - - - ranking = 0.66666666666667keywords = anaemia (Clic here for more details about this article) |