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)

Thalassemia is a common genetic disorder among the South Chinese. To see if thalassemia would adversely affect the erythrocyte response to recombinant human erythropoietin (rHuEPO, Epogen) in dialysis patients, the response to rHuEPO in 4 dialysis patients with thalassemic traits (thal-t) was compared with that of 4 control patients who were matched for age, sex, mode of dialysis and baseline hemoglobin levels over a 6-month period. Patients with thal-t showed a reduced erythrocyte response to rHuEPO compared to control dialysis patients as reflected by a reduced reticulocyte index, a slower rise in hemoglobin or hematocrit levels, requirement of a higher cumulated dose of rHuEPO to achieve a target hemoglobin of 10 g/dl and a higher maintenance dose of rHuEPO. A dialysis patient with hemoglobin H disease (HbHD) was also studied. He failed to respond to rHuEPO despite that the dose was increased to 250 U/kg/week. In contrast, his matched control dialysis patient, despite a lower baseline hemoglobin level (6.1 versus 8.8 g/dl), was able to reach a target hemoglobin level of 10 g/dl by 6 weeks and could be maintained at this level with 50 U/kg/week. The patient with HbHD had splenomegaly and a higher baseline serum erythropoietin level, reticulocyte count, serum bilirubin, serum ferritin and serum iron saturation than control patients and patients with thal-t. It was concluded that thal-t reduces the erythrocyte response to rHuEPO in dialysis patients and that in the presence of active hemolysis and enhanced endogenous erythropoietin secretion, dialysis patients with HbHD are resistant to treatment with rHuEPO.
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PMID:Influence of thalassemia on the response to recombinant human erythropoietin in dialysis patients. 834 81

A 20-year-old Japanese woman was admitted to our hospital with anemia and mild splenomegaly. Peripheral blood examination revealed Hb 9.4 g/dl, Ht 29.3%, RBC 4.74 x 10(6)/microliters, reticulocytes 2.4%, WBC 5,200/microliters, platelets 24.9 x 10(4)/microliters, MCV 61.7 fl, and MCH 19.9 pg. Poikilocytosis with target cells was recognized on the peripheral blood smear. A bone marrow aspirate revealed erythroid hyperplasia. Serum iron and ferritin were in the normal range. beta-thalassemia was suggested by the increase in HbA2 (6.5%) and HbF (7.5%). Analysis of beta globin DNA by single strand conformation polymorphism (SSCP) and amplification refractory mutation system (ARMS) confirmed a diagnosis of homozygous beta(+)-thalassemia due to -31 A to G mutation. A familial study revealed that her parents were heterozygous for this allele. This is the 8th case of homozygous beta(+)-thalassemia due to -31 A to G mutation in Japan.
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PMID:[Homozygous beta(+)-thalassemia due to -31 A to G mutation]. 875 83

The splenomegaly and the appearance of a significant number of CFU-E (erythroid colony-forming units) and BFU-E1 (erythroid burst-forming units) in the Belgrade laboratory rat (b/b) spleen prompted us to analyse further the molecular evidence for increased hematopoietic proliferation in the b/b spleen. Messenger RNAs (mRNAs) specific for globins, proteins for iron transport and deposition and the band 3 protein were used in rat erythropoietic tissues as markers for proliferation and erythroid differentiation. In the b/b spleen, all mRNAs analysed display an erythroid-specific pattern of expression. This analysis also revealed an enhanced level of mRNA for ferritin in the +/b spleen, whereas erythrocyte-specific mRNA production was normal.
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PMID:Molecular evidence for increased hematopoietic proliferation in the spleen of the b/b laboratory rat. 877 53

Primary hemochromatosis is characterized by a specific pattern of clinical manifestations. It includes liver disease with hepatomegaly, glucose intolerance, e.g. diabetes, hyperpigmentation oft the skin, impotence/ amenorrhea, arthropathy, cardiomyopathy and fatigue. Laboratory investigation reveals significantly elevated serum ferritin and transferrin saturation with iron. The diagnosis is confirmed by liver biopsy and quantitative determination of elevated liver iron content. Wilson's disease represents a copper storage disease. Prominent clinical features are hepatomegaly and splenomegaly. Neurological alterations and detection of Kayser-Fleischer corneal rings are typical. In the acute initial phase the often young patients present with Coombs-negative hemolysis. Psychiatric alterations, cardiomyopathy, arthropathy, nephropathy, as well as thrombocytopenia and leucopenia are other clinical features. Laboratory parameters of Wilson's disease include low serum ceruloplasmin and serum copper. There is an elevated urinary copper excretion and elevated serum free copper concentration. The diagnosis is confirmed by liver biopsy with quantitative determination of an elevated liver copper content.
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PMID:[Current diagnosis: hereditary metabolic diseases of the liver (primary hemochromatosis, Wilson disease)]. 898 78

In April 1988, a 23 year-old woman developed high fever, arthralgia, eruptions and splenomegaly. She was treated with non Steroid anti-inflammatory drugs, and the symptoms disappeared. In June 1991, she was diagnosed as adult Still's disease and treated with prednisolone. In July 1994, she was treated with pulse therapy methylprednisolone due to high fever, eruptions, arthralgia and the high levels of ferritin. However, due to the marked increase of serum transaminase and bilirubin levels, she was referred to University hospital. She developed hepatic failure after admission Bone-marrow puncture revealed hemophagocytosis. She died ten days after admission. She was diagnosed as hemophagocytic syndrome combined with acute hepatic failure.
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PMID:[A case of hemophagocytic syndrome with severe liver injury manifestating adult Still's disease]. 939 9

We describe a Black female who has suffered for many years from an (often) severe anemia (Hb 5-9 g/dl) with iron deficiency (serum Fe 8 microg/dl; TIBC 462 microg/dl; ferritin 7 ng/ml or less) and folate deficiency. The patient had hypermenorrhea which was appropriately treated resulting in an increase in hemoglobin level but not affecting the Fe deficiency. Splenomegaly was present, perhaps resulting from a clay-eating habit, although this was consistently denied. The patient had an alpha-thalassemia-2 (-3.7 kb) trait and a deletional hereditary persistence of fetal hemoglobin (HPFH) (type II) which were inherited from her father. Over the last six years the level of Hb F varied between 8.5 and 16% (25-29% in the father), while the G gamma value was also low (15-22% versus 32-34% in the father). Comparable reductions were seen in the relative levels of gamma-mRNA and G gamma-mRNA. These data support results published by Adams et al who showed a severe reduction in Hb F level in another HPFH heterozygote with Fe deficiency; these investigations suggested that a reduction in alpha-globin synthesis resulted in preferential formation of alpha beta dimers rather than alpha gamma dimers. Our data suggest that the decrease of Hb F and G gamma levels is due to a reduction in gamma-mRNA formation, mainly of the G gamma type, rather than through a posttranslational mechanism alone.
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PMID:Persistent iron and folate deficiency in a patient with deletional hereditary persistence of fetal hemoglobin; the effect on the relative levels of Hb F and G gamma chains and the corresponding mRNAs. 949 48

Hereditary spherocytosis is the most common inherent, autosomal dominant hemolytic anemia. Mild splenomegaly, venostasis and common decrease of while pulp is characteristic for hereditary spherocytosis. Cords are filled with spherocytes, sinuses can be empty or squeezed. Both sinuses and veins include ghost erythrocytes that lost haemoglobin. They are seen light-microscopically in differential interferent contrast. Macrophages are numerous, sinus lining cells are hypertrophic. Erythrophagocytosis is hardly seen by electron microscope. Not all red blood cells are spherocytes. Spherocytes are seen well in electronmicroscopy. We did not observed transition of erythrocytes through sinus walls. In certain circumstances lots of ferritin is seen both intra and extracytoplasmically. Iron accumulation in cords can result in their fibrosis.
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PMID:[The spleen in hereditary spherocytosis]. 956 Aug 87

A 3-year-old Filipino-American child with recurrent fever, splenomegaly, anemia, and thrombocytopenia, was found to have a hemoglobin F level of 76.9%. His reticulocyte count was elevated (4.3%), and erythroblasts were present in his peripheral blood. The child's erythrocytes were microcytic (MCV 66.9 fl) but his serum ferritin level was normal. His bone marrow at initial presentation demonstrated normal cellularity without an increase in blast cells. The disease progressed with worsening anemia, leukocytosis, and thrombocytopenia, with increased blasts in his marrow and the appearance of a mediastinal mass. His liver, spleen, and lymph nodes were found to be infiltrated with myeloblasts, supporting a diagnosis of juvenile myelomonocytic leukemia (JMML). Analysis of the child's Hb F showed a Ggamma/Agamma ratio of 2.2, which was within the characteristic range for JMML. A globin synthesis study using blood reticulocytes showed an alpha/non-alpha globin synthesis ratio of 2.24, typical of severe homozygous beta thalassemia. Southern blot analysis of blood-leukocyte DNA from the patient and his parents demonstrated no apparent abnormality in the beta-globin gene promoter or coding regions. The elevated level of Hb F in this child with JMML appeared to be part of an acquired Cooley's anemia-like hematologic phenotype.
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PMID:Juvenile myelomonocytic leukemia (JMML) with the hematologic phenotype of severe beta thalassemia. 959 Jan 52

Adult onset Stills disease (ASD), an adult variant of systemic onset juvenile rheumatoid arthritis, is a rare disease entity. The diagnosis is solely a clinical one and often difficult. Clinical and laboratory features are not pathognomonic. The diagnosis of ASD has to be considered in patients with high spiking fever, transient rash, arthralgias, oligo- or polyarticular arthritis, leukocytosis, sore throat, lymphadenopathy and/or splenomegaly, liver dysfunction and high serum ferritin levels. We give a brief review of the clinical features, differential diagnosis, treatment and prognosis.
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PMID:[Still disease in adults]. 962 78

Recombinant human erythropoietin (EPO; epoetin) has been shown to be effective in improving anemia in a proportion of cancer patients. The response rate is approximately 60%, but varies considerably according to baseline hematocrit and transfusion needs, as well as the response criteria used. Response is not greatly influenced by the type of tumor, except in situations of major marrow involvement and limited residual hematopoiesis, or in the presence of specific mechanisms of anemia, such as hemolysis, splenomegaly, bleeding, hemodilution, or ineffective erythropoiesis. Stem cell damage by previous therapy as well as marrow suppression by current intensive chemotherapy can impair response. Besides its intensity, the type of chemotherapy may not be critical, although patients undergoing platinum-based chemotherapy may respond faster than those receiving non-platinum regimens. Complications, such as infections, bleeding, or nutritional deficiencies, may have a major negative impact on outcome. An important response-limiting factor is functional iron deficiency (ie, an imbalance between iron needs in the erythropoietic marrow and iron supply), which depends on the level of iron stores and its rate of mobilization. Functional iron deficiency is best monitored by the percentage of hypochromic red blood cells, and oral or intravenous iron supplements should be given when this percentage increases above 10%. All these factors explain why the response rate to epoetin is only approximately 60%. Therefore, it would be interesting to develop models that could help predict response to epoetin to help select the most appropriate cancer patients for this therapy. Few baseline parameters have been shown to be highly predictive of response in patients with solid tumors, although most studies in patients with myeloma or lymphoma have indicated that patients with a low baseline serum EPO level will respond better. Early changes after 2 to 4 weeks of treatment are also of great interest. Among these early changes, increments of soluble transferrin receptor, reticulocytes, and hemoglobin, as well as the persistence of elevated ferritin or EPO levels, have all shown some predictive value. Combination of baseline serum EPO and the 2-week increment of soluble transferrin receptor or hemoglobin may provide the best prediction of response.
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PMID:Prediction of response to optimize outcome of treatment with erythropoietin. 967 27


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