Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038002 (splenomegaly)
 9,873 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The authors describe the case of a young Algerian, aged 32, suffering from mild icterus, accompanied by a marked splenomegaly. The blood count revealed a moderate degree of anaemia with reticulocytosis, pronounced anisocytosis, micro-spherocytes, bulls eye cells, folded cells, hypochrome cells, a marked polychromasia and a mild erythroblastosis. Present also were hyperbilirubinaemia, raised plasma haemoglobin, zero haptoglobin, a reduced osmotic fragility and half-life of erythrocytes. Haemoglobin electrophoresis showed 17.25% haemoglobin F, 62.8% haemoglobin C+A2 and no haemoglobin A. The genetic study indicated that the patient was a double heterozygote C/beta thalassaemia, his mother and his son both suffering from this disease. This thalassemic gene of type beta (0) totally inhibited the synthesis of haemoglobin A, the defect found in our patient.
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PMID:[Haemoglobinosis C/beta-thalassemia double heterozygosity in an Algerian patient with total suppression of haemoglobin A synthesis (author's transl)]. 67 Sep 35

During the Australian/British IBP studies on KarKar Island and at Lufa in the Eastern Highlands, Papua New Guinea, information was collected on the epidemiology and genetic constitution of the same subjects. Advantage of this special situation has been taken to determine whether any associations exist between the genetic markers and the disease states. Those found and which appear real include Rhesus D(u) with proteinuria; MN with splenomegaly and hepatomegaly; Ss with parotid enlargement; acid phosphatase, glucose-6-phosphate dehydrogenase, 6-phosphogluconate dehydrogense and haemoglobin J- Tongariki with presence of malarial parasites; phosphoglucomutase with proteinuria and parotid enlargement; haptoglobin with proteinuria and with splenomegaly and hepatomegaly. These associations are discussed in terms of the probabilities of their arising from heterogeneity in population structure, linkage disequilibrium and pleiotropy.
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PMID:Associations between polymorphic variety and disease susceptibility in two New Guinea populations. 82 72

Generalized adenopathy and splenomegaly developed in an 18-year-old youth after a severe tonsillitis followed by headache, tiredness and weight loss for several weeks. Infectious mononucleosis (acute Epstein-Barr virus infection) was confirmed by the demonstration of virus-specific antibodies. A reticulocytosis (24%), decreased haptoglobin concentration (0.6 mg/dl) and increased lactate dehydrogenase activity (657 U/l) indicated marked haemolysis. The bone marrow showed increased erythropoiesis with abnormal maturation. Antibodies against triosephosphate isomerase and against blood group marker "i" were demonstrated in the patient's serum. Antibodies against triosephosphate isomerase from the patient's serum were purified by affinity-chromatography. They strongly reacted with the patient's erythrocytes and under complement activation induced an increased 51Cr liberation from marked erythrocytes. No corresponding effect of anti-i-antibodies was noted at 37 degrees C. With the fall in antibodies against triosephosphate isomerase the haemolysis receded and the patient became free of symptoms after 7 weeks.
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PMID:[Infectious mononucleosis: hemolysis by autoantibodies against triosephosphate isomerase]. 217 94

The haemolytic process in hepatosplenic schistosomiasis is often regarded as a result of splenomegaly that can be increased by spontaneous or surgical shunts. The importance of splenomegaly and/or shunt on the etiology of haemolysis was studied in a group of 74 patients with hepatosplenic schistosomiasis and portal hypertension. They were divided into 4 groups: Group I (22 cases) - pre-operative; Group II (15 cases) - classic splenorenal shunt; Group III (22 cases) - selective portal decompression and Group IV (15 cases) - azygoportal disconnection with splenectomy. The first group is characterized by the presence of splenomegaly and the absence of shunt; the second by the presence of shunt and absence of splenomegaly; the third, by the presence of both splenomegaly and shunt and the last by absence of both, shunt and splenomegaly. In all cases, the levels of sensitive markers of haemolysis, such as haptoglobin and hemopexin as well as non-conjugated and total bilirubins were determined. Biochemical and coagulation parameters, used to evaluate the hepatic function, were also studied. The data was initially analysed according to a factorial experiment of 2 and standard least squares techniques were used to evaluate the effects of splenomegaly, shunt and their interaction. The results showed that the shunts always provoked haemolysis, even in the absence of splenomegaly, but the presence of both, splenomegaly and shunt, always increased the process of haemolysis.
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PMID:Systemic surgical shunts and splenomegaly as causes of haemolysis in portal hypertension in mansonic schistosomiasis. Evaluation through serum levels of haptoglobin, hemopexin and bilirubins. 308 93

The authors report on the case of a 40-year-old woman presenting with ichtyosiform erythroderma, central and peripheral neuropathy, splenomegaly and low serum haptoglobin levels. The patient's blood and urine contained large amounts of various ceramides polyhexoside including, in particular, a ceramide tetrahexoside containing fucose. The possibility of a new form of sphingolipidosis is discussed.
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PMID:[Neuropathy associated with ichthyosis and splenomegaly in an adult patient. Possible relationship with altered glycosphingolipid metabolism (author's transl)]. 626 63

Serological investigations (immunoglobulin, haptoglobin, cryoglobulin, and antibody determination against Plasmodium falciparum and P. malariae antigens) were performed in 64 adults of the Albert-Schweitzer-Hospital, Lambarene, Gabon. The patients were referred consecutively for ultrasound examination of the upper abdominal tract. 31 patients had clinically and sonographically an enlarged spleen, whereas 34 had a normal-sized spleen. 18 patients were regarded as having a gross splenomegaly without an obvious underlying cause (tropical splenomegaly (TSS]. No significant differences were seen between the patient groups with regard to immunoglobulin M or antiplasmodial antibody concentration. Thus, a causal association of splenomegaly with chronic malaria infections could not be established. The haptoglobin levels were significantly (P less than 0.01) reduced in patients with splenomegaly. Peripheral T-lymphocyte subsets as defined by monoclonal antibodies showed in all 4 cases with gross splenomegaly examined distinct abnormalities. Tropical splenomegaly is thought to encompass a variety of diseases, most of them presenting an intermediate stage of reactive to autonome disorders of the lymphatic system.
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PMID:Serological and immunological investigations in patients with gross splenomegaly from the Gabon. 660 59

A slight to moderate hemolysis is often present in plasma from patients with primary lipoprotein lipase (LPL) deficiency. To determine the nature of this hemolysis, we measured erythrocyte hypo-osmotic fragility, plasma free hemoglobin, and phospholipid composition in 26 patients with primary LPL deficiency and 21 unrelated controls. In some patients, these investigations were completed by erythrocyte cytoskeletal protein determinations and abdominal echography. Osmotic fragility was similar between control subjects and patients. However, there was a significantly increased concentration of plasma free hemoglobin in primary LPL deficiency (0.282 +/- 0.331 v 0.048 +/- 0.038 g/L in controls, P < .005). In LPL-deficient patients, an increase of plasma lysophosphatidylcholine concentration (12.6% +/- 5.8% v 6.4% +/- 1.9% in controls, P < .0001) was also found. The protein composition of the erythrocyte membrane skeleton was abnormal in some LPL-deficient patients and splenomegaly was present in 12, but these abnormalities did not correlate with plasma free hemoglobin levels. Bilirubin and haptoglobin levels were also within physiologic ranges in these patients, suggesting that the observed hemolysis did not result from hypersplenism. It appears likely that the accumulation of lysophosphatidylcholine was due to an impairment in the reverse metabolic pathway converting lysophosphatidylcholine back to phosphatidylcholine. Collectively, these data, along with a positive correlation between plasma free hemoglobin and lysophosphatidylcholine levels (r = .58, P = .0001), suggest that the hemolysis observed in primary LPL deficiency is mediated to some extent by the abnormally elevated concentration of lysophosphatidylcholine.
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PMID:Hemolysis in primary lipoprotein lipase deficiency. 775 15

Five cases of hereditary high red cell membrane phosphatidylcholine hemolytic anemia in three families were described. All cases were clinically manifested by jaundice and splenomegaly. Hemolysis was evident from indirect hyperbilrubinemia, reticulocytosis and decrement of serum haptoglobin. Red blood cells showed morphological abnormalities such as poikylocytosis, anisocytosis and target cells on blood smears. Both direct and indirect Coombs' tests were negative. Ham test, sugar water test and hemoglobin electrophoresis showed no abnormalities. Osmotic fragility test showed decreased membrane fragility. Lipid analysis of red cell membrane showed increment of phosphatidylcholine content and decrement of sphingomyelin content, although plasma lipids were essentially normal. Influx and efflux of sodium through the red cell membrane were both increased. Splenectomy was performed without effect on one patient and the mother of other patients.
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PMID:[Five cases of hereditary high red cell membrane phosphatidylcholine hemolytic anemia in three families]. 872 54

A 70-year-old woman was admitted to our hospital in November 1992 for evaluation of anemia. Physical examination revealed anemia, jaundice, swelling of axial and inguinal lymph nodes, and splenomegaly. Abnormal hematological findings were as follows: Hb of 3.9 g/dl, reticulocyte count of 58.2% (61.7 x 10(4)/microliters), hyperplasia of normal erythroblasts in bone marrow, and eosinophilia (21.0%, 2352/microliters) in peripheral blood. Routine laboratory examinations revealed polycolonal hypergammaglobulinemia 3.0 g/dl, a high level of serum LDH (797 IU/I) and a total bilirubin of 2.4 mg/dl (indirect, 1.6 mg/dl). The serum haptoglobin level was very low (< 5 mg/dl). Results of serological examinations were as follows: IgG of 3366 mg/dl, CH50 of 16.0 U/ml, positive Coombs test 2+, and positive tests for antinuclear antibody, rheumatoid factor, and cold agglutinin. CRP was negative. PHA-stimulated lymphocyte blast formation, NK activity, and ADCC activity were found to be suppressed, and the percentage of CD4-positive lymphocytes in peripheral blood was also low. An axillary lymph node biopsy revealed reactive lymphadenitis. No signs or history suggested allergy, collagen disease, or parasitic infection. Autoimmune hemolytic anemia (AIHA) complicated by immunologic abnormalities and eosinophilia was diagnosed. Oral prednisolone markedly reduced the hemolytic anemia, eosinophilia, lymph node swelling, and splenomegaly, but NK activity remained low.
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PMID:[Autoimmune hemolytic anemia with eosinophilia in elderly patient]. 892 99

The mechanism of resistance to recombinant human erythropoietin (EPO) in hemodialysis patients with hemoglobinopathy is not yet fully understood. Poor responses to EPO have been reported in anemic dialysis patients with sickle cell disease and thalassemia. We present the first case of a hemodialysis patient with EPO resistance and hemoglobin J-Meinung, which is initially found by hemoglobin electrophoresis and finally proven by molecular genetic analysis. Additionally, the patient was diagnosed as having chronic active hemolysis with hallmarks of splenomegaly, an increased serum bilirubin and reticulocyte index, and a reduced haptoglobin level. We discuss the possible mechanisms and proper treatment options in such patients with a poor response to EPO.
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PMID:Resistance to recombinant erythropoietin in a hemodialysis patient with heterozygous hemoglobinopathy J-Meinung. 915 14


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