1/5. Characterization of a novel mitochondrial dna deletion in a patient with a variant of the Pearson marrow-pancreas syndrome.We have recently diagnosed a patient with anaemia, severe tubulopathy, and diabetes mellitus. As the clinical characteristics resembled Pearson marrow-pancreas syndrome, despite the absence of malfunctioning of the exocrine pancreas in this patient, we have performed dna analysis to seek for deletions in mtDNA. dna analysis showed a novel heteroplasmic deletion in mtDNA of 8034bp in length, with high proportions of deleted mtDNA in leukocytes, liver, kidney, and muscle. No deletion could be detected in mtDNA of leukocytes from her mother and young brother, indicating the sporadic occurrence of this deletion. During culture, skin fibroblasts exhibited a rapid decrease of heteroplasmy indicating a selection against the deletion in proliferating cells. We estimate that per cell division heteroplasmy levels decrease by 0.8%. By techniques of fluorescent in situ hybridisation (FISH) and mitochondria-mediated transformation of rho(o) cells we could show inter- as well as intracellular variation in the distribution of deleted mtDNA in a cell population of cultured skin fibroblasts. Furthermore, we studied the mitochondrial translation capacity in cybrid cells containing various proportions of deleted mtDNA. This result revealed a sharp threshold, around 80%, in the proportion of deleted mtDNA, above which there was strong depression of overall mitochondrial translation, and below which there was complementation of the deleted mtDNA by the wild-type dna. Moreover, catastrophic loss of mtDNA occurred in cybrid cells containing 80% deleted mtDNA.- - - - - - - - - - ranking = 1keywords = anaemia (Clic here for more details about this article) |
2/5. diabetes mellitus and exocrine pancreatic insufficiency in a girl with auto-immune haemolysis.A 7-year-old girl developed diabetes mellitus and exocrine pancreatic insufficiency after 3.5 years of almost continuous treatment with azathioprine and/or prednisone for idiopathic auto-immune haemolytic anaemia. Although both drugs have been reported to preserve endogenous insulin secretion and to interrupt the diabetogenic process they may be responsible for diabetes and exocrine pancreatic insufficiency in our patient.- - - - - - - - - - ranking = 1keywords = anaemia (Clic here for more details about this article) |
3/5. thiamine responsive anaemia: a study of two further cases.A brother and sister of Pakistani origin suffered from sensorineural deafness, diabetes mellitus and a macrocytic anaemia. Their bone marrows showed megaloblastic erythropoiesis and contained many ringed sideroblasts. Electron microscope studies of the bone marrow revealed (1) iron-laden mitochondria in many erythroblasts, (2) non-specific abnormalities indicative of dyserythropoiesis in some erythroblasts, and (3) evidence of ineffective erythropoiesis. The deoxyuridine suppression test indicated that the megaloblastic changes were not caused by an impairment of the methylation of deoxyuridylate. Studies of nucleic acid synthesis in the bone marrow cells showed that the rate of incorporation of [3H]thymidine into dna was increased and that the rates of incorporation of [14C]glycine and [14C]adenine into both dna and rna were essentially within the normal range. The anaemia did not respond to therapy with hydroxocobalamin, folic acid or pyridoxine but responded to 25 mg thiamine, daily, by mouth. In one of the cases a post-thiamine marrow aspirate showed a considerable improvement in both the megaloblastic and sideroblastic changes.- - - - - - - - - - ranking = 6keywords = anaemia (Clic here for more details about this article) |
4/5. Influence of iron-deficiency anaemia on the glycosylated haemoglobin level in a patient with diabetes mellitus.iron-deficiency anaemia in a 68-year-old female patient with diabetes mellitus was associated with a marked rise in glycosylated haemoglobin level (from 10.7% to 15.4%). After treatment of the iron-deficiency anaemia, the glycosylated haemoglobin level fell to 11.0%. Control of her diabetes, as assessed by other measures, appeared to be satisfactory throughout.- - - - - - - - - - ranking = 6keywords = anaemia (Clic here for more details about this article) |
5/5. chlorpropamide-induced haemolytic anaemia.A newly diagnosed diabetic patient, recently started on chlorpropamide, required emergency admission because of sudden onset of weakness and syncope. in vitro testing confirmed the diagnosis of chlorpropamide induced haemolysis, and withdrawal of the drug resulted in clinical recovery.- - - - - - - - - - ranking = 4keywords = anaemia (Clic here for more details about this article) |