1/25. Efficacy of low dose intravenous immunoglobulins for post-splenectomy treatment of autoimmune haemolytic anaemia in a patient with hereditary spherocytosis.Summary Idiopathic autoimmune haemolytic anaemia developed in a patient with hereditary spherocytosis. The behaviour of some osmotic fragility tests throughout the illness and the efficacy of intravenous immunoglobulins in controlling autoimmune haemolysis which recurred post splenectomy are discussed- - - - - - - - - - ranking = 1keywords = anaemia (Clic here for more details about this article) |
2/25. Band 3 Cape Town (E90K) causes severe hereditary spherocytosis in combination with band 3 Prague III.Hereditary spherocytosis (HS) is an inherited haemolytic anaemia, characterized by spheroidal, osmotically fragile red blood cells. This disorder exhibits heterogeneity in terms of both clinical severity and underlying molecular defect. We have studied a South African Cape Coloured individual with severe HS owing to a band 3 deficiency caused by two mutations, occurring in trans, in the band 3 gene: a novel variant that we have designated band 3 Cape Town and a previously described mutation, band 3 Prague III. Analysis of erythrocyte membrane proteins indicated a deficiency of both band 3 and protein 4.2, as well as a decreased functional capacity of band 3 to transport anions. Band 3 Cape Town is defined by a GAG-->AAG point mutation at codon 90, substituting a glutamic acid with a lysine in the cytoplasmic domain of the molecule, while band 3 Prague III is a codon 870 CGG-->TGG point mutation, replacing an arginine with a tryptophan in the transmembrane region of band 3. mRNA is transcribed from both mutant alleles, implying that mutant proteins are synthesized, but are either degraded prior to membrane incorporation or insertion is impaired. We conclude that the combination of these two mutations exacerbated the clinical presentation of the proband.- - - - - - - - - - ranking = 0.2keywords = anaemia (Clic here for more details about this article) |
3/25. erythropoiesis inhibitor in a patient with hereditary spherocytosis.The studies dealt with the effect of plasma of a patient with congenital haemolytic anaemia on the erythropoiesis in mice. The materials included the plasma from the patient before and after splenctomy and the spleen homogenate and the spleen subcellular fractions. The effect of the materials was evaluated with the amount of the 59Fe taken up by the erythrocytes of the mice. The erythropoiesis was found to be inhibited by the plasma before splenectomy and by the spleen homogenate and its subcellular fractions. The inhibition was the highest in cases when the mice was given the spleen homogenates previously incubated with plasma of healthy persons.- - - - - - - - - - ranking = 0.2keywords = anaemia (Clic here for more details about this article) |
4/25. Hereditary spherocytosis (HS) due to loss of anion exchange transporter.BACKGROUND. Hereditary spherocytosis encompasses a heterogenous group of inherited disorders due to alteration of r.b.c. surface/volume ratio. spectrin deficiency is the most common observed defect. We analyzed a case of HS associated with band 3 deficiency without spectrin reduction. methods. In the study of a family originating from southern italy, we show that a 20% deficiency of band 3 with normal spectrin content may be responsible for dominantly inherited hereditary spherocytosis (HS). The proband is a 12 years old girl consulting for jaundice, chronic anaemia and splenomegaly. Her mother had a similar haematologic phenotype. RESULTS. Electrophoretic analysis of erythrocyte membrane proteins showed a deficiency in band 3 protein. Band 3 protein chymotryptic fragments, deglycosylated band 3, and its isolated cytoplasmic domain, all displayed normal electrophoretic migrations. Furthermore, the tryptic peptides profile of the cytoplasmic domain of the protein did not demonstrate any abnormality, nor did the amino acid composition of the peptides. Analysis of the membrane proteins during erythrocyte ageing, evaluated in density-fractionated red cells, showed that band 3 content was normal in the lighter fraction, whereas in the denser fraction band 3 deficiency was more pronounced than in membranes from non fractionated red blood cells. CONCLUSIONS. This case describes HS due to anion exchange transporter deficiency. Our results on fractioned red cells support the hypothesis that the defect was probably due to a band 3 protein loss during cell ageing and not to a primitive quantitative defect.- - - - - - - - - - ranking = 0.2keywords = anaemia (Clic here for more details about this article) |
5/25. Aplastic crisis due to human parvovirus B19 infection in hereditary hemolytic anaemia.Specific anti-B19 IgM was demonstrated in sera from three children showing transient aplastic crisis. A two years-old boy living in Rio de Janeiro suffering from sickle-cell anaemia showed the crisis during August, 1990. Two siblings living in Santa Maria, RS, developed aplastic crisis during May, 1991, when they were also diagnosed for hereditary spherocytosis. For a third child from this same family, who first developed aplastic crisis no IgM anti-B19 was detected in her sera.- - - - - - - - - - ranking = 1keywords = anaemia (Clic here for more details about this article) |
6/25. Hereditary spherocytosis, a pitfall in the assessment of glycaemic control.The use of glycosylated haemoglobin in the assessment of diabetic control is ubiquitous. Hereditary spherocytosis is a haemolytic anaemia with shortened red blood cell lifespan, which can interfere with the methods of glycosylated haemoglobin measurement. We report a case of hereditary spherocytosis in a young man with type 1 diabetes, and illustrate the discrepancy in the measurements of glycosylated haemoglobin, which were inconsistent with the blood glucose profiles. fructosamine, an alternative time-averaged indicator of blood glucose level, was advantageous in this particular situation. The awareness of the limitations of glycosylated haemoglobin is essential in the clinical care of patients with diabetes, which is a major health problem in singapore.- - - - - - - - - - ranking = 0.2keywords = anaemia (Clic here for more details about this article) |
7/25. Homozygosity for dominant form of hereditary spherocytosis.A 6-month-old male infant with hereditary spherocytosis (HS) who was the first child of a cousin marriage is presented. The patient had splenomegaly and severe anaemia. Examination of the peripheral blood smear revealed spherocytes and the osmotic fragility of red blood cells was greatly increased. physical examination of the parents revealed that both parents had mild anaemia, jaundice and splenomegaly. Their peripheral blood smears showed spherocytes and a few acanthocytes. osmotic fragility of red blood cells of both parents were increased. Red cell membrane electrophoresis indicated a deficiency of ankyrin in the propositus; mild deficiency was also detected in both parents. Electrophoretic patterns of red cell membrane proteins suggested that the child was homozygous for the dominant form of HS associated with ankyrin deficiency, while both parents had the simple dominant form of the disease. Red blood cell transfusions were given to the patient starting at the age of 1 month until splenectomy was performed at the age of 1 year that resulted in complete haematological response. This observation indicates that homozygosity for dominant type of HS associated with ankyrin deficiency is life compatible and splenectomy may cure the anaemia.- - - - - - - - - - ranking = 0.6keywords = anaemia (Clic here for more details about this article) |
8/25. polymerase chain reaction with double primer pairs for detection of human parvovirus B19 induced aplastic crises in family outbreaks.parvovirus B19 dna can be detected by polymerase chain reaction with double primer pairs (nested PCR). Recent infection was documented by a retrospective serological study using Parvoscan-B19 enzyme linked immunosorbent assay (EIA) for detection of B19 human parvovirus IgM and IgG antibodies in serum or plasma specimens. In 3 families B19 outbreaks caused aplastic crises necessitating blood transfusion in 5 children and 1 adult with hereditary sphaerocytosis. Four members from 2 of the families had clinically overt haemolytic anaemia prior to the event. Two members in another family presented with an aplastic crisis disclosing the underlying chronic haemolytic disease. All 7 patients were identified as PCR positive in serum samples taken 3-14 days after the onset of symptoms. Comparison with dot blot hybridization revealed detectable dna in only 2/3 PCR positive patients. Thus, nested PCR is more sensitive than the dot blot hybridization method and is therefore a suitable complement to the antibody assay for identifying recent B19 infection.- - - - - - - - - - ranking = 0.2keywords = anaemia (Clic here for more details about this article) |
9/25. Postoperative pulmonary embolism in a young female accompanying with factor v Leiden mutation and hereditary sypherocytosis.A 20 year-old female, heterozygous for factor v Leiden mutation (FVLM) is presented. Her personal history was prominent for severe anaemia during her gestation. Aetiology of anaemia was found to be hereditary spherocytosis (HS). Intrauterine foetal death had occurred at 20 weeks of gestational age. Two days after curettage, she developed pulmonary embolism (PE). This is an unusual case of pulmonary embolism and intrauterine foetal death coexisting with FVLM and/or HS. We present the case so that a general practitioner or haematologist can hardly see such cases in daily practice. Hence, a young female with PE should be screened for hypercoagulable states including FVLM or HS.- - - - - - - - - - ranking = 0.4keywords = anaemia (Clic here for more details about this article) |
10/25. Hereditary spherocytosis.Hereditary spherocytosis is a congenital haemolytic anaemia due to defect in spectrin-a RBC membrane protein and is transmitted as autosomal dominant. Due to this defect there is presence of characteristic spherical cell in peripheral blood smear and osmotic fragility is increased. Haemolytic anaemia, reticulocytosis, jaundice and splenomegaly are present. This article reports a case of a 9 year old boy who presented with a history of prolonged jaundice since the age of 4 years and recurrent pain in the right upper quadrant of abdomen. Clinical examination revealed jaundice, enlarged liver and marked splenomegaly. Investigations confirmed the diagnosis of hereditary spherocytosis by the presence of spherocytes in blood smear, raised reticulocytes and increased osmotic fragility. The patient was subjected to splenectomy after vaccination against coccobacillus and was discharged after proper advice and on post splenectomy antibiotic prophylaxis.- - - - - - - - - - ranking = 0.4keywords = anaemia (Clic here for more details about this article) |
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