1/29. pregnancy in bone marrow failure syndromes: diamond-Blackfan anaemia and Shwachman-diamond syndrome.pregnancy in bone marrow failure syndromes has risk to mother and fetus. There are fewer than 30 reports of cases with diamond-Blackfan anaemia (DBA), and none with Shwachman-diamond syndrome (SD). We report two DBA and one SD cases. One DBA mother received transfusions intra-partum, and the other only post-partum. Both required caesarean sections (C-sections) for failure of labour to progress and severe pre-eclampsia respectively. Both subsequently resumed pre-pregnancy steroid-induced control of anaemia. approximately 40% of DBA pregnancies required maternal transfusions; 25% delivered by C-section. The SD patient also had Ehlers-Danlos (ED) syndrome and urticaria pigmentosa (UP). Her blood counts were adequate until week 38, when the platelet count dropped and a C-section was performed. pregnancy management in marrow failure disorders requires obstetricians with expertise in high-risk pregnancies, and haematologists with experience with marrow failure syndromes.- - - - - - - - - - ranking = 1keywords = anaemia (Clic here for more details about this article) |
2/29. Erythropoietic uroporphyria of Gunther first presenting at 58 years with positive family studies.Erythropoietic uroporphyria of Gunther was seen in a 58-year-old man who presented with photosensitivity, haemolytic anaemia, and classical laboratory findings. family studies showed five asymptomatic relatives with erythrocyte uroporphyrin concentrations in the probable latent heterozygote range.- - - - - - - - - - ranking = 0.16666666666667keywords = anaemia (Clic here for more details about this article) |
3/29. Hereditary stomatocytosis: membrane and metabolism studies.A defect in the protein kinase-mediated phosphorylation of erythrocyte membrane proteins, previously unrecognized in stomatocytosis, was discovered in a boy with hereditary stomatocytosis and severe hemolytic anemia. The high-sodium, low-potassium erythrocytes of this patient were remarkably permeable to both sodium and potassium. The rate of ouabain-inhibitable active cation transport was more than ten times normal and was sustained by an increase of similar magnitude in glycolysis. The deformability in vitro of fresh stomatocytes was reduced and deteriorated further after a brief period of incubation with glucose. Ferrokinetic studies showed that these rigid cells were sequestered by the spleen. When stomatocytes were deprived of glucose in vitro, ATP depletion and ATPase cation pump failure rapidly ensued. Because of their permeability defect, such depleted cells rapidly became swollen and lysed. Prolonged entrapment in acidic, hypoglycemic regions of the spleen would recapitulate these unfavorable events in vivo. In this regard, splenectomy was followed by an improvement in erythrocyte survival, although evidence of continuing hemolysis was obtained.- - - - - - - - - - ranking = 0.0058719273358552keywords = hemolytic (Clic here for more details about this article) |
4/29. Severe refractory sarcoidosis in a 64-year-old man with persistent leucopenia.We present a case of bone marrow granulomas in a 64-year-old West Indian man who presented with severe leucopenia, anaemia, thrombocytopenia, hepatosplenomegaly, hypercalcaemia, hypercalciuria, elevated angiotensin converting enzyme level and reticulo-nodular shadows on chest X-ray. Bone marrow biopsy revealed numerous non-caseating epithelioid granulomas. A diagnosis of sarcoidosis was made and he was treated with prednisolone 60 mg daily for four weeks and the dose was subsequently reduced to 30 mg daily. Eight months follow-up revealed persistent pancytopenia. Bone marrow granulomas are rare and, when they occur, sarcoidosis is an uncommon aetiology. This case illustrates that severe leucopenia may occur in sarcoidosis and may present therapeutic difficulties.- - - - - - - - - - ranking = 0.16666666666667keywords = anaemia (Clic here for more details about this article) |
5/29. Myopathology and a mitochondrial dna deletion in the Pearson marrow and pancreas syndrome.A patient with the Pearson marrow and pancreas syndrome is presented. She showed an anaemia with neutropenia and thrombopenia, failure to thrive, diarrhoea, disturbed glucose homeostasis and lactic acidosis. An exocrine pancreatic insufficiency was lacking. The disease followed a fatal course. Biochemical investigations of skeletal muscle revealed a disturbed mitochondrial energy metabolism, while many ultrastructural abnormal features were observed in the muscle tissue. Molecular genetic studies showed a de novo deletion in the mitochondrial dna (mtDNA), different in size from the already published deletions and flanked by two 4 bp direct repeats, interspaced by 4-5 non-repeated nucleotides. mtDNA from 12 other tissues showed the same deletion in different percentages. No obvious relation between these percentages and tissue dysfunction was found. In spite of an open reading frame of 74 codons, only little transcription product of the genomic region resulting from the deletion was found.- - - - - - - - - - ranking = 0.16666666666667keywords = anaemia (Clic here for more details about this article) |
6/29. Bone marrow hypoplasia complicating tacrolimus (FK506) therapy.tacrolimus (FK506)-induced hematological toxicity, which has rarely been reported in transplant recipients, may result in anemia episodes, reported mainly in kidney and heart transplant recipients, sporadic cases of thrombotic thrombocytopenic purpura/hemolytic uremic syndrome, red cell aplasia (4 reported cases), and generalized bone marrow suppression (only 1 reported case). We describe a case of a liver transplant recipient with pancytopenia that appeared during immunosuppressive therapy with tacrolimus. This patient suffered from progressive anemia, leukopenia with severe neutropenia, and mild thrombocytopenia; bone marrow biopsy showed hypoplasia (20% of cellularity) without dysplasia. Bone marrow recovery was made possible by suspending tacrolimus and changing to immunosuppression with cyclosporine A, despite the two drugs being very similar in their mechanism of immunosuppression. Contrary to previously reported cases (pure red cell aplasia and bone marrow hypoplasia), the recovery of hemoglobin and neutrophil values was slow after tacrolimus suspension, even though in the first month transfusions were no longer necessary.- - - - - - - - - - ranking = 0.0058719273358552keywords = hemolytic (Clic here for more details about this article) |
7/29. Bone marrow cryptococcosis: a case report.A 35-year-old male presented with fever and bilateral cervical and axillary lymphadenopathy. Peripheral blood film examination revealed thrombocytopaenia. Bone marrow aspiration and trephine biopsy, done for evaluation of thrombocytopaenia and pyrexia showed presence of ill-defined granulomas along with cryptococcal yeast forms. Fine needle aspiration of lymph nodes, cerebrospinal fluid and sputum analyses also showed cryptococci. ELISA for Human Immunodeficiency Virus (hiv) antigen was positive. Granulomas, when found in bone marrow aspiration smears and trephine biopsy, are a valuable histological clue to an opportunistic infection. Disseminated fungal infection such as cryptococcosis should raise the possibility of immunosuppression, especially acquired immunodeficiency syndrome. bone marrow examination is a useful method of diagnosing opportunistic fungal and mycobacterial infections in patients with fever, anaemia or thrombocytopaenia and underlying hiv infection.- - - - - - - - - - ranking = 0.16666666666667keywords = anaemia (Clic here for more details about this article) |
8/29. Apparent hemolysis following intravenous antithymocyte globulin treatment in a patient with marrow failure and a paroxysmal nocturnal hemoglobinuria clone.BACKGROUND: Antithymocyte globulin (ATG) is a commonly used medication in the treatment of aplastic anemia. Although serum sickness has been described with the use of ATG, few cases of acute intravascular hemolysis have been reported. We report a case of apparent ATG-related hemolysis in a patient with aplastic anemia and a paroxysmal nocturnal hemoglobinuria (PNH) clone. CASE REPORT: A 62-year-old, group A, RhoD man with aplastic anemia and an 11.6 percent glycosylphosphatidylinositol (GPI)-anchored protein-negative population of red cells (RBCs), representing approximately 190 mL of his RBC volume, and 90 percent GPI-negative neutrophils were scheduled to receive equine ATG at 40 mg per kg per day for 4 days. After the first infusion, he developed a 1.6 g per dL decline in hemoglobin concentration and an increase in serum lactate dehydrogenase (normal, 113-226 U/L) from 284 to 1127 U per L. The hemolytic process was complicated by acute renal failure characterized by an increase in serum creatinine from 0.9 to 4.2 mg per dL and the appearance of dark-colored urine. Pre- and post-ATG direct antiglobulin tests were negative. CONCLUSION: The temporal association of intravenous ATG to lysis of complement-sensitive RBCs suggests a causal relationship. Although intravascular hemolysis after ATG administration appears to be uncommon, the clinical consequences may be severe, and determining the pathophysiology may yield clues to the mechanism of intravascular hemolysis.- - - - - - - - - - ranking = 0.0058719273358552keywords = hemolytic (Clic here for more details about this article) |
9/29. azathioprine and allopurinol: a potentially dangerous combination.We report the association of leucopenia and anaemia in five patients given a combination of azathioprine and allopurinol. Three subjects were renal transplant recipients with mild to moderate impairment of graft function. The complication appeared between 4 and 6 weeks following initiation of the combination therapy. Discontinuation of one of the two drugs resulted in full recovery within 4-8 weeks.- - - - - - - - - - ranking = 0.16666666666667keywords = anaemia (Clic here for more details about this article) |
10/29. Hemophagocytic syndrome causing complete bone marrow failure. Report of an extreme case of a reactive histiocytic disorder.The hemophagocytic syndrome is a reactive disorder of the mononuclear phagocytic system. Most of the cases are rare complications of common infectious and neoplastic diseases, although there may be an underlying immune disorder predisposing to this syndrome. We report a case in association with immune thrombocytopenia and hemolytic anemia (Evans' syndrome). The hemophagocytic reaction appeared after a bacterial infection of the urinary tract and presented with abrupt pancytopenia and complete hemopoietic failure. We discuss the possible mechanisms of bone marrow failure related with the hemophagocytic syndrome.- - - - - - - - - - ranking = 0.0058719273358552keywords = hemolytic (Clic here for more details about this article) |
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