1/7. Severe congenital dyserythropoietic anaemia type I: prenatal management, transfusion support and alpha-interferon therapy.We report a case of congenital dyserythropoietic anaemia, type I, with severe pre- and postnatal manifestations. Exchange transfusions were required for fetal anaemia (3.5 g/dl) at 28 and 30 weeks of gestation. Transfusions were administered at birth (Caesarean section at week 35) and at regular intervals thereafter. At 14 months, alpha-interferon therapy was initiated (106 units three times a week). This resulted in stabilization of the haemoglobin at or above 11 g/dl and a reduction in the percentage of erythroblasts with ultrastructurally abnormal heterochromatin. After 9 months, the dose of alpha-interferon was decreased to 106 units twice a week. No relapse of anaemia was noted during an additional 4 months of follow-up.- - - - - - - - - - ranking = 1keywords = anaemia (Clic here for more details about this article) |
2/7. Allogeneic bone marrow transplantation for severe post-splenectomy thrombophilic state in leaky red cell membrane haemolytic anaemia of the stomatocytosis class.The tendency for thrombosis to occur if haemolysis persists after splenectomy is especially marked in "hereditary stomatocytosis", in which the red cell membrane "leaks" Na and K. A 21-year-old woman, who was splenectomized in childhood for a congenital haemolytic state, presented with major pulmonary embolism that recurred despite anticoagulation. Tests showed a significant cation leak with a "shallow-slope" abnormality in temperature dependence. Allogeneic bone marrow transplantation caused the thrombophilic state to cease and subsequently anticoagulation was stopped without recurrence of thromboembolism. However, she died 9 months after transplantation: iron overload, intensified by the transfusion demands of the transplant, was a major factor.- - - - - - - - - - ranking = 0.57142857142857keywords = anaemia (Clic here for more details about this article) |
3/7. Iron chelation therapy in aceruloplasminaemia: study of a patient with a novel missense mutation.We describe a novel missense mutation of ceruloplasmin in a patient with aceruloplasminaemia causing the replacement of a neutral amino acid (phenylalanine) with a polar one (serine) at position 198, probably leading to abnormal folding and secretion of the protein. The patient showed mild microcytic anaemia, mild hepatic iron overload, and marked brain iron overload. Six months of therapy with deferiprone was ineffective in removing iron from the tissues. deferoxamine was more efficient in removing excess iron from the liver but aggravated the disease related anaemia. After more than one year of chelation treatment, the brain magnetic resonance imaging signal did not change. overall, these findings indicate that treatment of iron overload in aceruloplasminaemia is a difficult challenge and that new iron chelators, more efficient in crossing the blood-brain barrier, are needed.- - - - - - - - - - ranking = 0.28571428571429keywords = anaemia (Clic here for more details about this article) |
4/7. Unusual splenic sinusoidal iron overload in sickle cell/haemoglobin D-Punjab disease.Sickle cell/haemoglobin D-Punjab disease is a disorder with similar clinical features to sickle cell anaemia. This report describes the case of an 11 year old boy with this disease who was treated with regular transfusions from infancy. He underwent splenectomy at the age of 10 years for hypersplenism. histology of the spleen revealed a striking pattern of heavy sinusoidal endothelial iron loading, with only moderate uptake by macrophages. Possible explanations for this unusual distribution of iron include phagocytosis of sickled erythrocytes by sinusoidal endothelial cells or direct endothelial iron uptake via transferrin receptors. Transfusion programmes ameliorate the symptoms of sickle cell disease but the dangers of iron overload should always be remembered.- - - - - - - - - - ranking = 0.14285714285714keywords = anaemia (Clic here for more details about this article) |
5/7. Desferrioxamine related maculopathy: a case report.Desferrioxamine is used for the treatment of chronic iron overload, acute iron poisoning, and certain anaemias. Ocular toxicity secondary to prolonged treatment with desferrioxamine may result in night blindness, visual field constriction, cataract, pigmentary retinopathy and optic neuropathy. To avoid such complications an ophthalmic screening has been suggested for patients taking desferrioxamine. We report an 81-year-old patient who developed irreversible ocular toxicity despite undergoing ophthalmic screening.- - - - - - - - - - ranking = 0.14285714285714keywords = anaemia (Clic here for more details about this article) |
6/7. Long-term alpha interferon treatment is effective on anaemia and significantly reduces iron overload in congenital dyserythropoiesis type I.Interferon has been shown to be an effective treatment of congenital dyserythropoiesis type I (CDA-I), but the optimal dose and the feasibility of this treatment remains to be determined. Here, in a 9-yr follow-up of a single patient, we show that interferon remains active during such a long period. The optimal dose of conventional alpha interferon could be evaluated at 2 million units twice a week. Pegylated interferon could be used as well at a dose of 30 microg/wk. During interferon treatment, serum and erythrocyte ferritin levels decreased progressively, and remained inversely correlated with haemoglobin levels. On repeated liver biopsies, iron overload could be normalized. Low dose interferon is a long-term treatment of CDA-I, and allows a significant decrease in iron overload, that could be interesting even in patients who are only moderately anaemic.- - - - - - - - - - ranking = 0.57142857142857keywords = anaemia (Clic here for more details about this article) |
7/7. Clinics in diagnostic imaging (29). Thalassaemia major with iron overload.A 5-year-old girl presented with lethargy, anaemia and facial distortion. Both parents had beta-thalassaemia minor. Radiographs confirmed the characteristic features of thalassaemia major. A treatment regime comprising regular blood transfusions was commenced. The basis of the radiographic changes and the current role of magnetic resonance imaging, particularly with respect to assessing iron overload, are emphasized.- - - - - - - - - - ranking = 0.14285714285714keywords = anaemia (Clic here for more details about this article) |