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Haemolytic Anaemia (haemolytic + anaemia)
Kinds of Haemolytic Anaemia Selected AbstractsTriose phosphate isomerase deficiency associated with two novel mutations in TPI geneEUROPEAN JOURNAL OF HAEMATOLOGY, Issue 2 2010Elisa Fermo Abstract We report the clinical, haematological and molecular characteristics of two triose phosphate isomerase deficient patients affected by haemolytic anaemia and neuromuscular impairment. The sequence of complete TPI gene showed the presence of two previously undescribed mutations: c.722 T>C (Phe240Ser) and c.28 insG; each of the two unrelated patients showed the new mutation in compound heterozygosity with the most common variant Glu104Asp. The association of Glu104Asp with c.28 insG resulted in a very severe clinical pattern. [source] IgG2 containing IgM,IgG immune complexes predominate in normal human plasma, but not in plasma of patients with warm autoimmune haemolytic anaemiaEUROPEAN JOURNAL OF HAEMATOLOGY, Issue 3 2006Dorothea Stahl Abstract:, The different physicochemical and sterical properties of IgG subclasses may favour a selective enrichment of defined IgG subclasses in IgM,IgG immune complexes (IC) of human plasma under physiological conditions. Such enrichment of IgG subclasses in IgM,IgG IC of plasma may differ from the normal IgG subclass distribution in plasma itself, and contribute to the physiological functions of IgM,IgG IC. Systematic studies on the IgG subclass distribution in IgM,IgG IC in humans are lacking. Using specific analytical techniques to characterise IgM,IgG IC in human plasma (i.e. fast protein liquid chromatography, enzyme-linked immunosorbent assay, affinity biosensor technology), and taking warm autoimmune haemolytic anaemia (WAIHA) of humans as a disease model, we here demonstrate that: (i) IgG2 is the predominant IgG subclass in IgM,IgG IC under physiological conditions, (ii) the predominance of IgG2 within IgM,IgG IC may get lost in polyclonal IgG-mediated autoimmune disease and (iii) the IgG subclass distribution in IgM,IgG IC influences the interaction between IC and blood cells involved in antigen presentation. The data presented here therefore extend the physiological function of IgG2, which is the protective immune response towards carbohydrate antigens in bacterial infections, and suggest IgG2-dependent regulation of immune responses to self-immunoglobulin in humans. The disturbed IgG subclass distribution in IgM,IgG IC of patients with WAIHA might influence activity of self-reactive B cells involved in the pathophysiology of the disease. [source] First case of immune-mediated haemolytic anaemia associated to imatinib mesylateEUROPEAN JOURNAL OF HAEMATOLOGY, Issue 6 2003Marcia C. Zago Novaretti Abstract: Imatinib mesylate is a specific inhibitor of protein tyrosine kinase activity secondary to bcr-abl, mostly indicated for the treatment of patients with Philadelphia chromosome positive chronic myeloid leukaemia (CML). Generally, the undesirable effects of imatinib administration observed in clinical trials were of mild-to-moderate degree, and no haemolysis has been associated with this drug. We report here a case of immune-mediated haemolytic anaemia associated to imatinib mesylate successfully treated with prednisone in a patient with CML. Laboratory investigation showed anaemia [haemoglobin (Hb) of 59 g/L], reticulocyte of 61 × 109/L and a positive direct antiglobulin test. Anti-drug in vitro studies revealed a positive result with gel microcolumn assay by an adsorption mechanism. Seventy-four days after prednisone therapy, the patient's Hb level was of 110 g/L with negative direct antiglobulin test and drug in vitro studies. This case demonstrated that patients treated with imatinib mesylate can present immune-mediated haemolysis and adequate management of this event can be done maintaining the drug and associating corticosteroids. [source] Splenectomy in patients with malignant non-Hodgkin's lymphomaEUROPEAN JOURNAL OF HAEMATOLOGY, Issue 3 2000Nikolaos Xiros Abstract: Splenectomy in patients with non-Hodgkin's lymphoma (NHL) is performed for either diagnostic or therapeutic reasons. We report on a series of 29 patients with NHL and splenomegaly who underwent splenectomy during the years 1979,1998 in our hospital. According to the indication for splenectomy our patients were categorized in three groups. Group A: In 20 patients splenectomy was performed for diagnostic reasons. Group B: Three patients were splenectomized for autoimmune haemolytic anaemia (AIHA). Group C: Six patients underwent splenectomy because of hypersplenism. A definitive histopathological diagnosis of NHL was obtained in all patients of group A. Hypersplenism and AIHA were resolved in all patients after splenectomy. One (3.5%) patient died postoperatively because of septicemia complicated by disseminated intravascular coagulation. Six postoperative complications were observed in 4 (14%) patients. Splenectomy, with an acceptable surgical risk, has the potential to establish the diagnosis of NHL in patients with splenomegaly without lymphadenopathy and negative bone marrow findings. Moreover, splenectomy has the capacity to modify the disease course in patients with NHL complicated by AIHA or hypersplenism. [source] Phosphoglycerate kinase deficiency in two brothers with McArdle-like clinical symptomsEUROPEAN JOURNAL OF NEUROLOGY, Issue 1 2000J. Aasly Phosphoglycerate kinase (PGK) catalyses the transfer of the acylphosphate group of 1,3-diphosphoglycerate to ADP with formation of 3-phosphoglycerate and ATP in the terminal stage of the glycolytic pathway. Two young brothers are presented who both experienced muscle pain, cramps and stiffness shortly after beginning heavy exercise. After these episodes they noticed that the urine was dark brown, indicating rhabdomyolysis and myoglobinuria. The neurological examinations were without remarks. There was no lactate increase in the ischaemic forearm exercise test. Both had very low PGK levels in muscle, erythrocytes, leukocytes and fibroblasts. This is the first family with more than one affected case of PGK deficiency and exercise-induced stiffness, myalgia and rhabdomyolysis. The clinical manifestations may resemble myophosphorylase deficiency (McArdle's disease: glycogenosis Type V) and muscle phosphofructokinase deficiency (Tarui's disease: glycogenosis Type VII). PGK deficiency is inherited as an X-linked trait and may show other features such as mental retardation and/or haemolytic anaemia. [source] Molecular physiology of SLC4 anion exchangersEXPERIMENTAL PHYSIOLOGY, Issue 1 2006Seth L. Alper Plasmalemmal Cl,,HCO3, exchangers regulate intracellular pH and [Cl,] and cell volume. In polarized epithelial cells, they contribute also to transepithelial secretion and reabsorption of acid,base equivalents and of Cl,. Members of both the SLC4 and SLC26 mammalian gene families encode Na+ -independent Cl,,HCO3, exchangers. Human SLC4A1/AE1 mutations cause either the erythroid disorders spherocytic haemolytic anaemia or ovalocytosis, or distal renal tubular acidosis. SLC4A2/AE2 knockout mice die at weaning. Human SLC4A3/AE3 polymorphisms have been associated with seizure disorder. Although mammalian SLC4/AE polypeptides mediate only electroneutral Cl,,anion exchange, trout erythroid AE1 also promotes osmolyte transport and increased anion conductance. Mouse AE1 is required for DIDS-sensitive erythroid Cl, conductance, but definitive evidence for mediation of Cl, conductance is lacking. However, a single missense mutation allows AE1 to mediate both electrogenic SO42,,Cl, exchange or electroneutral, H+ -independent SO42,,SO42, exchange. In the Xenopus oocyte, the AE1 C-terminal cytoplasmic tail residues reported to bind carbonic anhydrase II are dispensable for Cl,,Cl, exchange, but required for Cl,,HCO3, exchange. AE2 is acutely and independently inhibited by intracellular and extracellular H+, and this regulation requires integrity of the most highly conserved sequence of the AE2 N-terminal cytoplasmic domain. Individual missense mutations within this and adjacent regions identify additional residues which acid-shift pHo sensitivity. These regions together are modelled to form contiguous surface patches on the AE2 cytoplasmic domain. In contrast, the N-terminal variant AE2c polypeptide exhibits an alkaline-shifted pHo sensitivity, as do certain transmembrane domain His mutants. AE2-mediated anion exchange is also stimulated by ammonium and by hypertonicity by a mechanism sensitive to inhibition by chelation of intracellular Ca2+ and by calmidazolium. This growing body of structure,function data, together with increased structural information, will advance mechanistic understanding of SLC4 anion exchangers. [source] Intravascular haemolysis in a patient on ceftriaxone with demonstration of anticeftriaxone antibodiesINTERNAL MEDICINE JOURNAL, Issue 6a 2008D. Dinesh Abstract Drug-induced haemolytic anaemia can be life threatening. We report a case of ceftriaxone-induced severe haemolytic anaemia in a previously healthy 68-year-old woman. The patient had a positive direct antiglobulin test (anti-C3d positive, anti-immunoglobulin G negative). Serological tests showed ceftriaxone-specific antibodies. The patient recovered after cessation of the drug. This complication may cause milder anaemia and thus be poorly recognized. [source] Two generations with familial thrombotic thrombocytopenic purpuraINTERNATIONAL JOURNAL OF CLINICAL PRACTICE, Issue 1 2006R. G. Rodrigues Summary Thrombotic thrombocytopenic purpura (TTP) is a rare multi-system disease characterised by the pentad of microangiopathic haemolytic anaemia, thrombocytopenia, renal dysfunction, fever and neurologic changes. A hereditary form of recurrent familial TTP has been described, which usually presents in adolescence or early adulthood and can lead to recurrent or chronic relapsing TTP. Genetic analyses of patients with familial TTP have linked the disease to chromosome 9q34, and an increased incidence is seen in people with HLA-B40 group antigens. We describe here an 11-year-old Egyptian girl with no significant past medical history who presented with new onset of bruising, petechial rash, fatigue and fevers and was diagnosed with familial TTP. Further testing revealed that both the patient and her father had the HLA-B40 group antigen and also had ADAMTS-13 von Willebrand factor-cleaving protease deficiency as well as factor-H deficiency. [source] Treatment of refractory fludarabine induced autoimmune haemolytic with the anti-cd20 monoclonal antibody rituximabINTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, Issue 1 2006R. SWORDS Summary A patient with cold-type autoimmune haemolytic anaemia for 8 years developed progressive B cell chronic lymphocytic leukaemia (CLL). Despite the risk of fludarabine induced exacerbation of haemolysis, he was given aggressive anti-CLL therapy with six courses of FCR (fludarabine 25 mg/m2 D1,3, cyclophosphamide 250 mg/m2 D2,4 and rituximab 375 mg/m2 D1) every 4 weeks. This resulted in a marked acute increase in haemolysis shortly after completing each course of fludarabine. However, haemolysis had settled to its baseline level by the time of subsequent courses of FCR. FCR resulted in complete clinical remission of CLL but residual haemolysis persisted. The patient was then given four weekly infusions of single agent rituximab, resulting in ongoing remission of haemolysis. In this patient, rituximab appears to have controlled fludarabine induced exacerbation of autoimmune haemolysis. In addition, subsequent single agent rituximab therapy resulted in prolonged remission of cold-type autioimmune haemolytic anaemia. It remains to be seen if the addition of rituximab will allow other patients with a positive direct Coomb's test and/or autoimmune haemolysis to receive fludarabine containing chemotherapy without undue risk of life-threatening haemolytic anaemia. [source] Flow-cytometric analysis of erythrocytes and reticulocytes in congenital dyserythropoietic anaemia type II (CDA II): value in differential diagnosis with hereditary spherocytosisINTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, Issue 1 2001P. Danise Congenital dyserythropoietic anaemia type II (CDA II) is the most common congenital dyserythropoietic anaemia. CDA II is frequently misdiagnosed as Hereditary Spherocytosis (HS) due to the presence of mild chronic haemolytic anaemia with splenomegaly, increased osmotic fragility, and presence of microspherocytes. Accurate diagnosis of CDA II is important to prevent severe iron overload. Erythrocyte and reticulocyte indices were assessed in 10 patients from six families with CDA II, 18 patients from eight families with HS, and 50 normal controls. Characteristic increases in distribution width were present in CDA II for cell volume (RDW, anisocytosis) and in HS for cell haemoglobin concentration (HDW, anisochromia), resulting in an RDW/HDW ratio which was significantly greater in CDA than HS (P < 0.0002). A cut-off value for RDW/HDW of 5.34 resulted in 89% sensitivity and 70% specificity in distinguishing CDA II from HS. Distribution width for cell haemoglobin content of reticulocytes (CHDWr) was characteristically increased in CDA II, resulting in a CHDW/CHDWr ratio significantly lower in CDA II than HS (P < 0.0002). A cut-off value of 0.98 provided 89% sensitivity and 80% specificity in distinguishing CDA II from HS. These differences in distribution widths of flow-cytometric parameters of reticulocytes and mature erythrocytes reflect the different pathogeneses of the two diseases and are helpful for the differential diagnosis of these two conditions. [source] Infectious haemolytic anaemia causes jaundice outbreaks in seawater-cultured coho salmon, Oncorhynchus kisutch (Walbaum), in ChileJOURNAL OF FISH DISEASES, Issue 12 2006P A Smith Abstract In the last 9 years, epizootics of an icterus condition has affected coho salmon, Oncorhynchus kisutch (Walbaum), reared in seawater cages in southern regions of Chile. At necropsy, fish from field cases exhibited signs of jaundice accompanied by pale light-brown livers and dark spleens. Histopathological and haematological results indicated that these fish presented haemolytic anaemia. After microbiological examination no bacterial or viral agents could be identified as aetiological agents of this disease. In an infectivity trial, coho salmon, Atlantic salmon, Salmo salar L., and rainbow trout, Oncorhynchus mykiss (Walbaum), were inoculated intraperitoneally with a filtrate of an organ homogenate (0.45 ,m) from a diseased coho salmon and held for 60 days in tanks supplied with fresh water. The disease was only reproduced in coho salmon in which mortalities, beginning at day 23 post-inoculation (p.i.), reached a cumulative value of 24% at day 27 p.i. This condition was transmitted to non-inoculated cohabiting coho salmon suggesting that it is a waterborne disease. Thus, this icteric condition is caused by an infectious form of haemolytic anaemia, probably of viral aetiology, and coho salmon are more susceptible than either Atlantic salmon or rainbow trout. [source] Evaluation of platelet activation in canine immune-mediated haemolytic anaemiaJOURNAL OF SMALL ANIMAL PRACTICE, Issue 6 2010A. E. Ridyard Objectives: To establish whether heightened platelet activation is a common feature of canine immune-mediated haemolytic anaemia, and to evaluate the hypothesis that platelet activation plays a role in the pathogenesis of thromboembolism. Methods: Using whole-blood flow-cytometric analysis, the proportion of activated platelets and platelet-leucocyte aggregates in blood samples from 14 dogs with immune-mediated haemolytic anaemia and 14 healthy dogs was calculated. General linear models with binomial errors were used to compare groups. Results from the immune-mediated haemolytic anaemia-affected dogs were then correlated with established risk factors for thromboembolism in canine immune-mediated haemolytic anaemia, D-dimer concentration and antithrombin activity. Results: There was a strong correlation between platelet activation and severe thrombocytopenia, with heightened platelet activation being observed predominantly in severely thrombocytopenic dogs. Clinical Significance: Dogs with immune-mediated haemolytic anaemia, particularly those with concurrent severe thrombocytopenia, are likely to have heightened platelet activation, which may play a role in the pathogenesis of thromboembolism. [source] Coombs', haemoplasma and retrovirus testing in feline anaemiaJOURNAL OF SMALL ANIMAL PRACTICE, Issue 4 2010S. Tasker Objective: To investigate the associations between Coombs' testing, haemoplasma and retroviral infections, and feline anaemia. Methods: Haematology, Coombs' testing (including assessment of persistent autoagglutination) and selected infection testing (haemoplasma, feline leukaemia virus/feline immunodeficiency virus provirus) were performed in blood samples collected from 60 anaemic and 60 non-anaemic cats. Results: No association between infection and anaemia or Coombs' positivity existed. Anaemic cats (21.7%) were significantly more likely than non-anaemic cats (0%) to have cold autoagglutination (P<0.0001), but significance (set at ,0.0025 due to multiple testing) was not quite reached when Coombs' positivity was compared between anaemic (40.4% and 21.7% positive at 4°C and 37°C, respectively) and non-anaemic (20% and 3.3% positive, P=0.021 and P=0.004, at 4°C and 37°C, respectively) cats. Cats with immune-mediated haemolytic anaemia were significantly more likely to have persistent cold autoagglutination (P<0.0001) and be Coombs' positive at 37°C with polyvalent (P<0.0001), immunoglobulin (Ig)G (P<0.0001) or any antiserum (P<0.0001). Haemoplasmas and retroviruses were uncommonly detected. Clinical Significance: Cats suspected of having immune-mediated haemolytic anaemia should be evaluated for persistent autoagglutination at 4°C as well as performing Coombs' testing at 37°C, but positive results may occur in with other forms of anaemia. Testing for erythrocyte-bound antibodies should always be interpreted in parallel with documentation of haemolysis in anaemic cats. [source] Haemolytic uraemic syndrome: An overview (Review Article)NEPHROLOGY, Issue 3 2006IRADJ AMIRLAK SUMMARY: Haemolytic uraemic syndrome (HUS) is the most common cause of acute renal failure in children. The syndrome is defined by triad of microangiopathic haemolytic anaemia, thrombocytopenia and acute renal failure (ARF). Incomplete HUS is ARF with either haemolytic anaemia or thrombocytopenia. HUS is classified into two subgroups. Typical HUS usually occurs after a prodrome of diarrhoea (D+HUS), and atypical (sporadic) HUS (aHUS), which is not associated with diarrhoea (D,HUS). The majority of D+HUS worldwide is caused by Shiga toxin-producing Esherichia coli (STEC), type O157:H7, transmitted to humans via different vehicles. Currently there are no specific therapies preventing or ameliorating the disease course. Although there are new therapeutic modalities in the horizon for D+HUS, present recommended therapy is merely symptomatic. Parenteral volume expansion may counteract the effect of thrombotic process before development of HUS and attenuate renal injury. Use of antibiotics, antimotility agents, narcotics and non-steroidal anti-inflammatory drugs should be avoided during the acute phase. Prevention is best done by preventing primary STEC infection. Underlying aetiology in many cases of aHUS is unknown. A significant number may result from underlying infectious diseases, namely Streptococcus pneumoniae and human immunedeficiency virus. Variety of genetic forms include HUS due to deficiencies of factor H, membrane cofactor protein, Von Willebrand factor-cleaving protease (ADAMTS 13) and intracellular defect in vitamin B12 metabolism. There are cases of aHUS with autosomal recessive and dominant modes of inheritance. Drug-induced aHUS in post-transplantation is due to calcineurin-inhibitors. Systemic lupus erythematosus and catastrophic antiphospholipid syndrome may also present with aHUS. Therapy is directed mainly towards underlying cause. [source] Derivated fetal haemoglobin as a marker for red cell age in the human fetus reflecting stimulated or impaired red blood cell productionPRENATAL DIAGNOSIS, Issue 7 2001Margriet Huisman Abstract We have determined whether derivated fetal haemoglobin (dHbF, consisting of glycated and acetylated HbF) can be used as a cell age marker for fetal red blood cells (RBCs). Cord blood was obtained between 19 and 39 weeks of gestation from 28 alloimmunised anaemic fetuses (23 RhD+ and 5,Kell) and from 20 non-anaemic fetuses and newborns (controls). Density gradient centrifugation was applied to 36 samples (20 RhD+, 15 controls and 1,Kell) to obtain fractions of increasing cell age. Blood samples were used for measurements of mean cellular volume (MCV), mean cell haemoglobin (MCH), mean corpuscular haemoglobin concentration (MCHC), pyruvate kinase activity (PK) and derivated fetal haemoglobin (dHbF) by cation-exchange HPLC. Reticulocytes were counted only in the whole blood samples. In all density gradient separated RBC fractions, the values for MCV, MCH and PK activity decreased and those of MCHC and dHbF increased with increasing density (equivalent to increasing cell age). The mean density was lower for RBCs of the anaemic RHD group (1.072±0.007,g/ml) than for the non-anaemic controls (1.077±0.005,g/ml) (p<0.05) The RBC density of the Kell sensitised fetus did not differ from those of the controls. In the control group, the values of the cell age markers in whole blood changed significantly with the gestational age, showing an increase of mean age of the erythrocyte population. The best linear relationship was found for dHbF (y=6.28+0.17*weeks; r=0.84; p<0.001). In the anaemic RhD+ fetuses, the RBC age markers did not change with gestational age; the dHbF percentages were lower, and the MCV, MCH, PK values and the reticulocyte counts were higher than in the controls (0.05 Refractory thrombotic thrombocytopenic purpura following influenza vaccinationANAESTHESIA, Issue 4 2009P. J. Dias Summary Thrombotic thrombocytopenic purpura (TTP) is characterised by the systemic microvascular aggregation of platelets causing ischaemia of the brain and other organs. We describe the case of a 54 year-old man who presented with neurological signs, fever, severe thrombocytopenia, microangiopathic haemolytic anaemia and renal failure 5 days after receiving an influenza vaccination. He was diagnosed with acute refractory TTP caused by autoantibody-mediated ADAMTS-13 deficiency. He required stabilisation on the critical care unit before being successfully treated with 3 l plasma exchanges for 21 days and rituximab (MabThera®) at a dose of 375 mg.m,2, given weekly for a total of 4 weeks. Vaccination is an important part of preventative medicine and reduces morbidity and mortality. Only in a few rare cases has vaccination been associated with autoimmune pathology. We could find only one similar case report of thrombotic thrombocytopenic purpura following influenza vaccination. In addition to plasma exchange, rituximab appears to be effective and well tolerated in the treatment of refractory thrombotic thrombocytopenic purpura. [source] Successful treatment of disseminated cutaneous phaeohyphomycosis in a dogAUSTRALIAN VETERINARY JOURNAL, Issue 12 2006IM Swift A 7-year-old castrated male Whippet developed deep ulcerative skin lesions whilst receiving immunosuppressive doses of prednisolone and cyclosporine for the treatment of immune-mediated haemolytic anaemia. The lesions were determined to be a phaeohyphomycosis, caused by Curvularia lunata. The dog was treated with a combination of systemic antifungals and weaning off immunosuppressants and made a complete recovery. To the authors' knowledge, this is the first case report of the successful treatment of disseminated cutaneous phaeohyphomycosis in a dog. [source] Clinicopathological findings associated with feline infectious peritonitis in Sydney, Australia: 42 cases (1990,2002)AUSTRALIAN VETERINARY JOURNAL, Issue 11 2005JM NORRIS Objectives To review the clinicopathological findings in naturally-occurring, histopathologically confirmed cases of feline infectious peritonitis in client-owned cats in Sydney, Australia, with the purpose of identifying factors assisting in the diagnosis of this complex disease syndrome and to characterise the disease as it occurs in this region. Design Retrospective clinical study: the clinical records of all cats with histopathologically confirmed feline infectious peritonitis at the University Veterinary Centre Sydney and a private cat hospital in Sydney between 1990 and 2002 were reviewed for signalment, history, physical findings, diagnostic test results and the distribution of histological lesions throughout the body at necropsy. Results Forty-two cats met the inclusion criteria. Significant features of this study that unique to the contemporary literature are i) the over-representation of certain breeds (Burmese, Australian Mist, British Shorthaired, and Cornish Rex) and the under-representation of other breeds (Domestic Shorthaired, Persian); ii) the overrepresentation of males; iii) the tendency for effusive disease in Australian Mist cats and non-effusive disease in Burmese; iv) the even age distribution of disease seen in cats older than 2 years-of-age; and v) the presence of fulminant immune-mediated haemolytic anaemia in two cats in this study. Conclusion The study highlights the diverse range of clinical manifestations and the complexities experienced by clinicians in diagnosing this fatal disease. Some aspects of the epidemiology and clinical manifestations of feline infectious peritonitis appear different to the disease encountered in Europe and North America, most notably the over-representation of specific breeds and the presence of immune-mediated haemolytic anaemia. [source] Complete heart block associated with lupus in a dogAUSTRALIAN VETERINARY JOURNAL, Issue 7 2003R MALIK A 5-year-old Poodle-cross was initially presented for exercise intolerance and difficulty in chewing and yawning. Some months later it acutely developed lethargy referable to complete heart block. Further investigations before and after permanent pacemaker implantation demonstrated Coombs-positive immune-mediated haemolytic anaemia, presumptive masticatory myositis and hypoadrenocorticism, suggesting the possibility of multisystem auto-immune disease. A diagnosis of systemic lupus erythematosus (SLE) was made based on these findings and a positive anti-nuclear antibody titre. It was thought that immune-mediated destruction of cardiac conduction tissues was responsible for the development of atrioventricular conduction block. Glucocorticoid deficiency was corrected using cortisone replacement therapy. SLE was controlled successfully for 10 months using azathio-prine monotherapy until signs, subsequently shown to be due to subacute bacterial endocarditis, resulted in the death of the patient. Lupus should be considered as a potential underlying aetiology in dogs that develop heart block. [source] Chronic and severe haemolytic anaemia caused by co-inheritance of , -thalassaemia and triplicated , -globin genesBRITISH JOURNAL OF HAEMATOLOGY, Issue 6 2007Chen Wang No abstract is available for this article. [source] Congenital mitral stenosis presenting with haemolytic anaemiaBRITISH JOURNAL OF HAEMATOLOGY, Issue 6 2006Philip Peter Connor No abstract is available for this article. [source] Does a negative direct antiglobulin test exclude warm autoimmune haemolytic anaemia?BRITISH JOURNAL OF HAEMATOLOGY, Issue 5 2006A prospective study of 504 cases No abstract is available for this article. [source] Molecular characterization of six unrelated Italian patients affected by pyrimidine 5,-nucleotidase deficiencyBRITISH JOURNAL OF HAEMATOLOGY, Issue 5 2003Paola Bianchi Summary. Pyrimidine 5,-nucleotidase deficiency is a rare autosomal recessive disorder characterized by haemolytic anaemia, marked basophilic stippling and accumulation of pyrimidine nucleotides within the erythrocytes. The gene encoding for this enzyme (P5,N-1) has been cloned recently, and seven mutations have so far been identified in 11 unrelated families. We describe the haematological and molecular characteristics of six unrelated Italian patients affected by pyrimidine 5,-nucleotidase deficiency (one from northern and five from southern Italy). The sequence of the complete P5,N-1 gene showed the presence of four different new mutations: a missense mutation AAT,AGT at codon 190 (Asn,Ser), one splicing mutation (IVS9-1 g-c) and two frameshift mutations, DelG576 and InsGG743. Although the molecular defect was homozygous in all patients but one, parents' consanguinity could be confirmed in only one case. InsGG743 was detected in two cases, and DelG576 was found in three patients originating from southern Italy, suggesting a possible geographical distribution of the genetic defect. Haematological data showed the presence of peripheral spherocytosis in all cases, although only one had a concomitant membrane defect. An increase in serum ferritin levels was observed in the splenectomized patients, suggesting that the iron status of these subjects should be monitored and that they should be investigated for potential additional risk factors for iron accumulation. [source] The effect of treatment with Campath-1H in patients with autoimmune cytopeniasBRITISH JOURNAL OF HAEMATOLOGY, Issue 4 2001F. Willis We describe 21 patients with severe and life-threatening autoimmune cytopenias resistant to standard immunosuppression who were treated with the monoclonal antibody Campath-1H. Four patients had autoimmune neutropenia, four had autoimmune haemolytic anaemia, four had pure red cell aplasia, one had immune thrombocytopenia purpura (ITP), three had autoimmune haemolytic anaemia and ITP (Evan's syndrome), three had autoimmune pancytopenia (ITP, autoimmune neutropenia and autoimmune haemolytic anaemia), one had ITP (associated with acquired Glanzmann's disease) and autoimmune neutropenia, and one had ITP and red cell aplasia. Campath-1H was administered at a dose of 10 mg/d as an intravenous infusion for 10 d. Responses were seen in 15 patients, which were sustained in six. Relapse occurred in eight patients after Campath-1H treatment. Patients entering the study later, received cyclosporine after Campath-1H in an attempt to reduce the incidence of relapse. Three patients received a second course of Campath-1H; all responded but later relapsed. Fourteen patients are alive at a median of 12 months (range 4,61) after Campath-1H. Campath-1H represents an alternative therapeutic option for severe, refractory autoimmune cytopenias. [source] Laparoscopic splenectomy: a suitable technique for children and adultsBRITISH JOURNAL OF SURGERY (NOW INCLUDES EUROPEAN JOURNAL OF SURGERY), Issue 3 2000T. J. Wheatley Aims: Splenectomy retains an important role in the management of certain haematological conditions that fail to respond to conventional medical therapy, and has traditionally been performed through a midline or left subcostal incision with patients requiring 5,7 days in hospital. The well recognized benefits of laparoscopic surgery should also apply to splenectomy. This study aimed to develop a safe and effective technique suitable for all age ranges and without the requirement for expensive stapling devices. Methods: An operative technique evolved over the 5-year period from 1994, from an initial six-port approach with the patient supine, to a four-port approach in a modified right lateral position, with locking surgical clips applied down a 5-mm port to vessels in the hilum, and removal of the spleen within a retrieval bag through a 4,6-cm Pfannanstiel incision. Data were collected prospectively for all patients undergoing laparoscopic splenectomy at Leicester Royal Infirmary, including demographic details, indication for surgery, duration of surgery, length of inpatient stay, transfusion requirement, postoperative complications and the response of the original condition to surgical intervention. Results: A total of 40 patients underwent laparoscopic splenectomy (14 children, 26 adults) for a variety of conditions (idiopathic thrombocytopenia (ITP) (n = 24), haemolytic anaemia (n = 9) or malignancy (n = 7)) with a median operating time of 180 min for the first 20 patients and 100 min for the second 20 (P < 0·0001), and median inpatient stay of 3 days for the first 20 patients and 2 days for the second 20 (P < 0·0003). None of the operations was converted to open surgery, five patients required blood and/or platelet transfusion perioperatively, none of the patients had major postoperative complications, 23 of the 24 patients with ITP developed normal platelet counts after operation, and all nine patients with haemolytic anaemia maintained a normal haemoglobin concentration after operation. Conclusions: Laparoscopic splenectomy can be performed safely and effectively in adults and children without the need for stapling devices. © 2000 British Journal of Surgery Society Ltd [source] Spectrum of novel mutations in the human PKLR gene in pyruvate kinase-deficient Indian patients with heterogeneous clinical phenotypesCLINICAL GENETICS, Issue 2 2009P Kedar Eighteen unrelated pyruvate kinase (PK)-deficient Indian patients were identified in the past 4 years with varied clinical phenotypes ranging from a mild chronic haemolytic anaemia to a severe transfusion-dependent disorder. We identified 17 different mutations in the PKLR gene among the 36 mutated alleles. Ten novel mutations were identified: 427G>A, 499C>A, 1072G>A, 1180G>T, 1216G>A, 1220A>G, 644delG, IVS5 (+20) C>A, IVS9 (+44) C>T, and IVS9 (+93) A>C. A severe syndrome was commonly associated with some mutations, 992A>G, 1436G>A, 1220A>G, 644delG and IVS9 (+93) A>C, in the PKLR gene. Molecular graphics analysis of human red blood cell PK (RPK), based on the crystal structure of human PK, shows that mutations located near the substrate or fructose 1,6-diphosphate binding site may change the conformation of the active site, resulting in very low PK activity and severe clinical symptoms. The mutations target distinct regions of RPK structure, including domain interfaces and catalytic and allosteric sites. In particular, the 1216G>A and 1219G>A mutations significantly affect the interdomain interaction because they are located near the catalytic site in the A/B interface domains. The most frequent mutations in the Indian population appear to be 1436G>A (19.44%), followed by 1456C>T (16.66%) and 992A>G (16.66%). This is the first study to correlate the clinical profile with the molecular defects causing PK deficiency from India where 10 novel mutations that produce non-spherocytic haemolytic anaemia were identified. [source]
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