Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002871 (anemia)
 52,094 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 36-year-old white man was found to have low erythrocyte acetylcholinesterase activity. Plasma cholinesterase activity was normal. The propositus had mild anemia and moderate elliptocytosis, but was asymptomatic. A sister, brother, father, and nephew were hematologically normal, but had slightly subnormal red cell acetylcholinesterase activities. There was no exposure to organophosphates, and paroxysmal nocturnal hemoglobinuria was excluded. Mixing experiments failed to demonstrate the absence of an activator or the presence of an inhibitor. The propositus enzyme showed normal kinetics for the substrate and various inhibitors, normal thermostability, and electophoretic migration. Major protein bands of the red cell membrane were normal by electrophoresis. Membrane cholesterol and phospholipid content were also normal. The mild anemia is presumably secondary to the presence of moderate elliptocytosis. The pattern of inheritance of the variant gene is unclear, but the propositus may be homozygous for the abnormal allele, and other family members may be heterozygous.
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PMID:Hereditary deficiency of erythrocyte acetylcholinesterase. 54 20

Total heme catabolism has been studied through measurement of the endogenous production of carbon monoxide (VCO) in 8 patients with hemolysis, 7 with hypoproliferative anemia, 10 with refractory anemia and hypercellular bone marrow and 7 with splenomegaly, 6 of whom had myeloid metaplasia. Simultaneously, catabolism of circulating red cell hemoglobin heme (Vheme-c) was measured through labelling of the red cells with 51Cr, and the VCA/Vheme-c ratio was calculated for each patient. From a control group it was calculated that this ratio should vary around 1.5. Since no isotope studies were performed in the control group, no range could be defined. Among patients with hemolysis the VCO/Vheme-c ratio was found to vary between 1.3 and 1.8 except in 2 cases of paroxysmal nocturnal hemoglobinuria (PNH) and PNH?, respectively, in whom the ratios were found to be 0.6 and 0.7 suggesting some heme catabolism without corresponding CO formation. In the hypoproliferative group the ratio varied between 1.2 and 1.8 except in one patient treated with androgens, in whom the ratio was found to be 2.9, suggesting increased extraerythrocytic heme turnover. In patients with myeloid metaplasia the ratio varied between 1.3 and 1.8. On the other hand, the ratio varied getween 2.4 and 3.0 among patients with refractory anemia and hypercellular bone marrow, thus confirming earlier findings that in this type of anemia turnover of bone marrow heme is markedly increased. A significant correlation was found between VCO and initial morning COHb%(r equals 0.84). The conclusions drawn are (a) that Vheme-c sometimes represents less than 50% of total heme turnover and (b) that COHb and/or VCO reflect total heme turnover except in patients with blood loss or intravascular hemolysis with hemoglobinuria.
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PMID:Heme catabolism, carbon monoxide production and red cell survival in anemia. 112 65

Three patients with paroxysmal nocturnal hemoglobinuria accompanied by chronic renal lesions were studied. All the cases had histories of severe hemolytic anemia and repeated hemoglobinuria. The biopsy specimen of the kidney of two patients (Case 1 and Case 2) showed interstitial nephritis. Renal glucosuria, tubular proteinuria, increased urate clearance (Case 2) and reduced tubular reabsorption of phosphate (Case 3) were revealed in Case 2 and Case 3, suggesting renal tubular impairment. From the nephrological point of view, hemodynamic alteration resulting from intravascular hemolysis and severe persistent chronic anemia may primarily be responsible for the renal impairment.
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PMID:Renal impairment in patients with paroxysmal nocturnal hemoglobinuria. 117 24

Hemolysis can be induced by two general mechanisms. In the first one, erythrocytes lyse intravascularly due to complement fixation, trauma, or other extrinsic factors. In the second mechanism, which is the most common, the red cells are removed from the circulation by the mononuclear-phagocytic system either because they are intrinsically defective or because of the presence of bound immunoglobulins to their surfaces. The diagnosis of hemolysis is not difficult to establish and is based on the presence of anemia with sustained reticulocytosis in the absence of blood loss. Additional findings can include marrow erythroid hyperplasia; increased unconjugated bilirubin, LDH, and free hemoglobin; decreased haptoglobin and hemopexin; hemoglobinuria and hemosiderinuria; and decreased 51Cr red cell half-life. Hemoglobinemia, hemoglobinuria, and hemosiderinuria occur only in the setting of severe and rapid intravascular hemolysis. Conditions associated with significant lysis of red cells in the circulation include incompatible transfusion, G6PD deficiency, PNH, severe burns, and certain infections. The morphology of the red cell is abnormal in almost all cases of hemolytic anemia. However, the morphologic abnormality can be, in certain cases, diagnostic of the underlying condition. Treatment is usually supportive, with effective therapy directed to treat the underlying cause of hemolysis.
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PMID:Hemolytic anemias. Diagnosis and management. 157 62

Paroxysmal nocturnal haemoglobinuria (PNH) was diagnosed in a 20-year-old male patient who suffered from anaemia since the age of 11. Eighteen years after diagnosis, PNH transformed into refractory anaemia with ringed sideroblasts (RARS). Trisomy 8 was observed in 27%, 45% and 53% of the bone marrow metaphase cells analysed in 1987, 1988 and 1990 respectively. In order to determine which bone marrow cell lineages were affected by trisomy 8 and at which stage of stem cell differentiation, MAC (Morphology, Antibody, Chromosomes) and CISS (Chromosomal In Situ Suppression) hybridization techniques were combined. The MAC technique enables karyotypic analysis of morphologically and immunologically classified mitotic cells. CISS hybridization makes it possible to detect individual chromosomes and chromosome aberrations using recombinant DNA libraries from sorted human chromosomes. Trisomy 8 was detected in granulomonocytic (50.6%), erythrocytic (67.2%) and megakaryocytic (one megakaryocyte with trisomy 8, one normal) lineages, providing evidence for the occurrence of trisomy 8 in early haematopoietic cell precursors, at the GEMM or pluripotent level. Cytogenetic and clinical data suggest that the sideroblastic clone originated from a mutation affecting a cell of the PNH clone, progressively replaced by the PNH/RARS clone, due to proliferative advantage.
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PMID:Trisomy 8 detection in granulomonocytic, erythrocytic and megakaryocytic lineages by chromosomal in situ suppression hybridization in a case of refractory anaemia with ringed sideroblasts complicating the course of paroxysmal nocturnal haemoglobinuria. 164 28

Forty cases of paroxysmal nocturnal hemoglobinuria (PNH) were studied from 1978 to 1988. Thirty patients were male and 10 were female. Their ages ranged from 15 to 58 years with a median of 32 years. Symptoms related to anemia (85%) and dark colored urine (45%) were the most frequent clinical manifestations. Seven patients (17.5%) had a previous history of aplastic anemia. The interval between the diagnosis of aplastic anemia and PNH ranged from 11 months to 26 years. All the patients had anemia with varying combinations of cytopenia. In 36 patients, bone marrow examinations were performed, and 32 were hypercellular, one normocellular and 3 hypocellular. Documented thrombosis was noted in 3 patients, involving the intra-abdominal, cerebral and renal veins, respectively. The patient with intra-abdominal venous thrombosis subsequently died of E. coli septicemia. The remaining two patients achieved complete recovery. All 40 patients were treated with corticosteroids and/or anabolic agents, 32 (80%) patients improved and 4 (10%) achieved normal hemoglobin levels. Our studies demonstrate that there is a male predominance in Chinese PNH patients and the incidence of thrombotic complications is much lower than that reported by Western countries.
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PMID:Paroxysmal nocturnal hemoglobinuria: analysis of 40 cases. 168 81

To determine whether patients with acquired asplastic anemia (AA) exhibit clonal hematopoiesis, we used restriction fragment length polymorphisms of the X-linked genes phosphoglycerate kinase (PGK1) and hypoxanthine phosphoribosyltransferase (HPRT) and the X-linked probe M27 beta. Of the 19 female patients studied, 18 (95%) patients were informative for at least one marker. Of these, eight patients (42%) were heterozygous for PGK1, two (11%) for HPRT, and 16 (84%) for M27 beta. In 13 (72%) patients, a monoclonal pattern was found. Analysis of purified cell suspensions of four of these patients showed that both myeloid and lymphoid cells were of monoclonal origin, indicating the involvement of an early stem cell. The four patients who were studied at presentation all showed a monoclonal pattern. One of these patients showed a spontaneous recovery despite persistent clonal hematopoiesis. The presence of either clonal or polyclonal hematopoiesis did not show a correlation with the response to antithymocyte globulin (ATG) treatment. A relapse after ATG was also seen in a patient exhibiting polyclonal hematopoiesis. Conversely, a monoclonal pattern did not preclude the occurrence of a partial or complete response to ATG. Other potential markers to study clonality, including cytogenetic abnormalities or point mutations of the N-ras protooncogene, were not found in any of the patients. It is concluded that patients with AA may exhibit clonal hematopoiesis. The significance with respect to evolution to disorders with clonal hematopoiesis like paroxysmal nocturnal hemoglobinuria, myelodysplasia, and acute leukemia remains to be determined.
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PMID:Clonal hematopoiesis in patients with acquired aplastic anemia. 163 35

Retrospective analysis of 17 cases of paroxysmal nocturnal hemoglobinuria (PNH) was carried out. The presenting feature of anaemia and hemoglobin of less than 9 gm% were observed in all cases. Fever, jaundice and bleeding tendency were observed in 8, 8 and 7 cases respectively. Bone marrow examination revealed megaloblastic features, erythroid hyperplasia and hypocellularity in 8, 7 and 2 cases respectively. Fourteen cases were refractory to the treatment, while only 3 showed response.
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PMID:Paroxysmal nocturnal hemoglobinuria: a study of 17 cases. 209 51

In a dose escalation study we tested the feasibility and tolerance of high-dose recombinant human erythropoietin (r-HuEPO) therapy in four patients with ineffective erythropoiesis due to myelodysplastic syndromes (MDS) or paroxysmal nocturnal hemoglobinuria (PNH). Recombinant human EPO was administered i.v. with an initial dose of 50 U/kg body weight (BW) three times per week. The dose was increased by steps of 25 or 50 U/kg bW with intervals of 1-4 weeks up to a maximum dose of 500 U/kg BW three times per week. All patients were treated as outpatients. Pre-study treatment with cyclosporin A and/or Danazol was continued in three patients. In one patient r-HuEPO was discontinued after 20 weeks because of relapse of severe aplastic anemia. No major side effects were observed even at the maximum dose. One patient with PNH showed an increase of hemoglobin from 89 to 139 g/liter that permitted monthly phlebotomies to reduce his iron overload. In one patient with MDS the reticulocyte count increased from 2.5 to 50 x 10(9)/liter, and the transfusion requirement decreased to 2 U every 3-4 weeks instead of every 2 weeks. Two patients did not complete the whole treatment period and showed no rise in reticulocyte count. We conclude that high dose r-HuEPO therapy is feasible in patients with anemia due to MDS or PNH. High-dose r-HuEPO appears to have some effect on anemia due to ineffective erythropoiesis in a subgroup of patients. Further studies are needed to identify potential responders and to define the optimal administration of r-HuEPO.
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PMID:High-dose recombinant human erythropoietin for treatment of anemia in myelodysplastic syndromes and paroxysmal nocturnal hemoglobinuria: a pilot study. 222 80

A 41-year-old female, who had been diagnosed as having paroxysmal nocturnal hemoglobinuria (PNH) in 1985, was admitted to our hospital with cough, fever, diarrhea, vomiting and palpitation in April 1988. The chest X-ray showed pneumonia in her right lung. In the peripheral blood, red blood cell count was 1.64 x 10(6)/microliters, hemoglobin 4.7 g/dl and reticulocytes 19%. The levels of serum LDH, indirect bilirubin and creatinine were high. Pneumonia improved by the administration of antibiotics, however, anemia and renal failure deteriorated. After washed red blood cell transfusions totalling 2,000 ml and six times of hemodialysis, renal function returned to normal. This patient with PNH appeared to have developed acute renal failure by dehydration and hemolytic crisis due to pneumonia.
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PMID:[Acute renal failure following dehydration and hemolytic crisis due to pneumonia in a case of PNH]. 232 82


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