1/24. 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) |
2/24. 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) |
3/24. 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) |
4/24. 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) |
5/24. 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) |
6/24. 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) |
7/24. Syndrome of Shwachman and leukaemia.The syndrome of Shwachman is characterized by pancreatic insufficiency and bone marrow dysfunction, usually manifesting itself as neutropenia. The pancreas shows replacement of the exocrine glands by adipose tissue; sweat electrolytes are normal. A 23-year-old male who was known to suffer from neutropenia and pancreatic dysfunction from early childhood, presented with fever, acquired pelger-huet anomaly (of the polymorphonuclear granulocytes) and sideroblastic anaemia, a combination of symptoms suggestive of preleukaemia. A few months later he died of acute myeloblastic leukaemia and autopsy showed a dystrophic pancreas. Considering this case history it seems possible that the haematological anomalies of Shwachman's syndrome are signs of preleukaemia. Careful follow-up of patients suffering from Shwachman's syndrome seems warranted.- - - - - - - - - - ranking = 0.16666666666667keywords = anaemia (Clic here for more details about this article) |
8/24. Adrenal carcinoma with reactive plasmacytosis.An 18 year old boy presented with anaemia, congestive cardiac failure and a 'renal mass'. Preoperative and post-operative investigations demonstrated "reactive plasmacytosis" with antibodies directed against a non-functioning adrenal carcinoma. Existing literature on reactive plasmacytosis and anti-tumour antibodies is summarised.- - - - - - - - - - ranking = 0.16666666666667keywords = anaemia (Clic here for more details about this article) |
9/24. myelodysplastic syndromes in childhood: three case reports.Three children with myelodysplastic syndromes (MDS) are described following the diagnostic criteria proposed by the FAB-cooperative group. Two of the children were of Turkish origin. Two cases fit the criteria for 'refractory anaemia with excess of blasts in transformation'. The other one is most consistent with 'chronic myelomonocytic leukaemia'. The patients received 'ANLL type' induction. One died during induction, two were grafted, of whom one survives.- - - - - - - - - - ranking = 0.16666666666667keywords = anaemia (Clic here for more details about this article) |
10/24. Autoimmune haemolytic anaemia associated with bone marrow sarcoidosis.The coexistence of autoimmune haemolytic anaemia (direct IgG antiglobulin test) and pure bone marrow sarcoidosis is described in a 69-year-old woman. This case report seems to be the 5th in the available literature.- - - - - - - - - - ranking = 0.83333333333333keywords = anaemia (Clic here for more details about this article) |
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