1/169. A case of complete adenylate kinase deficiency due to a nonsense mutation in AK-1 gene (Arg 107 --> Stop, CGA --> TGA) associated with chronic haemolytic anaemia.Two siblings of Italian origin with mild chronic haemolytic anaemia, psychomotor impairment and undetectable adenylate kinase (AK) activity are reported. The other red cell enzyme activities were normal except for a slight decrease of PFK. 2,3-DPG levels were increased in both siblings, and AMP decreased in one only. The parents were not consanguineous and displayed intermediate AK activity. The sequence of complete erythrocyte AK-1 cDNA showed the presence of a nonsense homozygous mutation at codon 107 (CGA --> TGA, Arg --> Stop) in the siblings. The mutation results in a truncated protein of 107 amino acids in comparison with the 194 of the normal one. Moreover a 37 bp deletion in the first part of exon 6 (from nt 326 to nt 362 of the cDNA sequence) was detected in one allele; this deletion is not likely to further affect the enzyme structure, being localized after the stop codon. The new variant was named AK Fidenza, from the origin of the patients.- - - - - - - - - - ranking = 1keywords = anaemia (Clic here for more details about this article) |
2/169. Identification of a novel promoter mutation in the human pyruvate kinase (PK) LR gene of a patient with severe haemolytic anaemia.Using direct sequencing we analysed the pyruvate kinase (PK) LR gene of a patient with severe haemolytic anaemia due to PK deficiency. A novel promoter mutation -249delA relative to the translation initiation site and the common 1529A mutation in exon 11 of the gene could be identified. reverse transcription (RT)-PCR analysis combined with restriction digestion revealed that the -249delA mutation leads to a reduction in the amount of mRNA produced from this allele to about 6% of normal. We assume that both mutations would account for the PK deficiency in the compound heterozygous patient.- - - - - - - - - - ranking = 1keywords = anaemia (Clic here for more details about this article) |
3/169. ceftriaxone associated hemolysis.A 48-year-old immunocompetent women treated with ceftriaxone 2 g daily i.v. for late Lyme borreliosis developed severe haemolytic anaemia. The patient had previously received the same antibiotic two times without any side effects. The first clinical signs began to appear on the seventh day of treatment. The patient developed severe anaemia with a haemoglobin level of 45 mg/l on day 10; thereafter she ceased to receive the antibiotic. The outcome was favourable. The clinical course and serologic results suggest that severe anaemia was induced by ceftriaxone and that drug adsorption as well as immune complex mechanisms were involved in the pathogenesis.- - - - - - - - - - ranking = 0.6keywords = anaemia (Clic here for more details about this article) |
4/169. Management of severe and complicated malaria in the intensive care unit.malaria remains today one of the major health problems in the tropics with increased morbidity and mortality. The most serious complications are caused by plasmodium falciparum, which, in contrast to the benign malarias, may progress to a life-threatening multi-system disease. Our case concerns a young woman in the 14th week of pregnancy, admitted to the ICU in a coma, with pulmonary oedema, haemolytic anaemia, renal failure and thrombocytopenia as complications of P. falciparum malaria. The case is discussed and possible explanations for the clinical picture and complications of P. falciparum malaria are given in the light of experiences from the literature.- - - - - - - - - - ranking = 0.2keywords = anaemia (Clic here for more details about this article) |
5/169. Oxaliplatin-induced haemolytic anaemia.A case of haemolytic anaemia after therapy with oxaliplatin, an anticancer chemotherapeutic agent, was investigated. Haemolytic anaemia has been associated with cisplatin and carboplatin, two related drugs, but not with oxaliplatin.- - - - - - - - - - ranking = 1.2keywords = anaemia (Clic here for more details about this article) |
6/169. Severe inclusion body beta-thalassaemia with haemolysis in a patient double heterozygous for beta(0)-thalassaemia and quadruplicated alpha-globin gene arrangement of the anti-4.2 type.We describe a new case of an association of alpha-globin gene quadruplication of the anti-4.2 type with beta(0)-thalassaemia. The patient, a young woman of mixed Brazilian-Portuguese origin, suffered from chronic haemolytic anaemia with splenomegaly. bone marrow supravital staining with brilliant cresyl blue and electron microscopy studies showed large inclusion bodies in about 3% of erythroblasts. Upon immunofluorescent staining these inclusions reacted with a monoclonal antibody to alpha- but not to beta-globin. Analysis of alpha-globin cluster by Southern blotting showed the presence of pathologic fragments specific for the anti-4.2 alpha-globin gene quadruplication. Alpha/beta mRNA ratio was higher than in cases combining alpha-globin triplication and beta(0)-thalassaemia or in cases of beta(0)-thalassaemia heterozygous state alone (18, 14.7 and 10.1 respectively). Our data confirmed the hypothesis that the clinically detectable haemolysis in this beta(0)-thalassaemic patient was due to an unusually high amount of precipitated alpha-globin in erythroid precursors. This considerable excess of alpha-globin chains was due partly to the beta-globin deficit caused by the presence of the beta(0)-thalassaemic gene, but also to the presence of 6 active alpha-globin genes resulting from alpha-globin gene quadruplication in one chromosome.- - - - - - - - - - ranking = 0.2keywords = anaemia (Clic here for more details about this article) |
7/169. Multiple autoimmune haemopoietic disorders and insidious clonal proliferation of large granular lymphocytes.We report a patient with clonal proliferation of CD3 8 TCRalphabeta large granular lymphocytes (LGL) presenting multiple episodes of autoimmune cytopenia, including autoimmune neutropenia, idiopathic thrombocytopenic purpura, autoimmune haemolytic anaemia, and pure red cell aplasia. Each disorder appeared separately or as a combination during an 11-year clinical course. The increase of blood CD3 8 TCRalphabeta LGL was detected 6 years after the initial diagnosis of cytopenia, but the absolute number of LGL cells was always < 1.0 x 109/l. LGL cells were of monoclonal origin and had a chromosomal abnormality. LGL cells transiently responded to cyclosporine A therapy, which was also effective on all of these autoimmune cytopenias. Accordingly, an undetectable level of proliferation of a clonal LGL population could cause various autoimmune haemopoietic disorders.- - - - - - - - - - ranking = 0.2keywords = anaemia (Clic here for more details about this article) |
8/169. Dyserythropoiesis associated with a fas-deficient condition in childhood.Defective lymphocyte apoptosis caused by mutations of the Fas gene can result in an autoimmune lymphoproliferative syndrome (ALPS) in humans. We report two cases of dyserythropoiesis associated with a Fas-deficient condition in childhood. In both cases, dyserythropoiesis predominated on the more mature erythroblasts, and was associated with a lymphoproliferative syndrome as well as with haemolytic anaemia, hypergammaglobulinaemia and the expansion of an unusual population of CD4- CD8- T cells that express the alpha/beta T-cell receptor. The regression of dyserythropoiesis under steroid therapy suggested that it resulted from an autoimmune mechanism, itself secondary to the lymphocyte Fas apoptosis deficiency. Fas-defective apoptosis may be a new aetiology for childhood dyserythropoiesis.- - - - - - - - - - ranking = 0.2keywords = anaemia (Clic here for more details about this article) |
9/169. Benzathine penicillin induced immune haemolytic anaemia.Penicillin-induced immune haemolytic anaemia is very rare. A ten year-old-female with rheumatic mitral stenosis on benzathine penicillin prophylaxis presented with features of haemolytic anaemia and investigations supported the diagnosis of immune haemolytic anaemia. Patient responded to discontinuation of the drug and therapy with oral prednisolone. This is first such case reported from india.- - - - - - - - - - ranking = 1.4keywords = anaemia (Clic here for more details about this article) |
10/169. Isoimmune haemolysis in pathogenesis of anaemia after cardiac surgery.A patient who had received multiple transfusions developed antiglobulin-positive haemolytic anaemia due to a delayed haemolytic transfusion reaction. Many cases of haemolytic anaemia after cardiac surgery could be explained on this basis.- - - - - - - - - - ranking = 1.2keywords = anaemia (Clic here for more details about this article) |
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