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)

A retrospective survey of 700 marrow examinations in Papua New Guinea in a 2 1/2 year period has been carried out. Over half of the total came from the Port Moresby General Hospital. Anaemia and splenomegaly were the commonest indications. A disturbing proportion of the specimens were unsatisfactory for interpretation. Hypercellular marrows with erythroid hyperplasia were very common. Iron stores were absent or nearly absent in almost half of the evaluable specimens; this proportion rose to over 95% amongst pregnant or post-partum women with anaemia. Other relatively frequent findings included: a combination of features consistent with hypersplenism; mild degrees of eosinophilia and/or plasmacytosis; and mild degrees of megaloblastic changes. Haematological malignancies were found in over 10% of evaluable specimens. Of 611 assessable marrows from Melanesians, only 11 (1.8%) were entirely normal, but another 151 (24.7%) contained only minor abnormalities.
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PMID:A review of 700 bone marrow aspirations in Papua New Guinea. 26 75

The initial clinical and laboratory data of 25 patients with acquired idiopathic sideroblastic anemia (AISA) were analyzed. Criteria for accepting the diagnosis were hyperferremia, ringed marrow sideroblasts, ineffective erythropoiesis, and exclusion of associated hematologic disorders. The findings of a mean age at onset of 70 years, increased mean corpuscular volume, relative neutropenia; and occasional splenomegaly at diagnosis corresponded with previous reports. During the followup for a median period of 32 months, 6 patients (25%) transformed to acute myelogenous or myelomonocytic leukemia after widely variable intervals. The initial data base of these patients was compared to that of the remaining 19 patients in order to isolate predictive features. Only a lesser degree of hyperferremia (P less than 0.001) made the group going on to leukemia distinctive. The median survival of these patients was 20 months. The median survival of 19 patients not developing leukemia was 72 months for males and 42 months for females. Hemochromatosis was diagnosed in four patients and was a primary or associated cause of death in three. Analysis of the transfusion history suggested that intrinsic iron leading was a major factor in these patients. We conclude that leukemic transformation in AISA is a common, poorly predictable event which required lengthy followup for detection. Hemochromatosis in AISA occurs frequently and shortens the median survival.
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PMID:Leukemia in patients with acquired idiopathic sideroblastic anemia: an evaluation of prognostic indicators. 29 23

The rarity of hemoglobin (Hb) H disease in combination with sickle trait may be due in part to the absence of actual Hb H in individuals who, nonetheless, have inherited the deletion of three alpha-globin genes. We describe here a boy with persistent microcytic, hypochromic anemia despite adequate iron stores, who exhibited splenomegaly with a normal reticulocyte count and only rare inclusions in circulating erythrocytes. Starch gel electrophoresis and isoelectric focusing at age 5 yr showed 21% Hb S, persistent Hb Bart's, but no Hb H. Recticulocyte alpha/non-alpha globin chain synthesis ratio was 0.58 at age 5. The mother (Asian) had laboratory evidence of alpha-thalassemia trait and the father (Black) had sickle trait. The nature of alpha-thalassemia in this patient was investigated both by liquid hybridization and by the Southern method of gene mapping, in which DNA is digested with restriction endonucleases and the DNA fragments that contained the alpha-globin structural gene identified by hybridization with complementary DNA. The patient had only one alpha-globin structural gene, located in a DNA fragment shorter than that found in normal or alpha-thalassemia trait individuals, but similar to that present in other patients with Hb H disease. Morphologic studies of bone marrow by light and electron microscopy revealed erythroid hyperplasia with inclusions in polychromatic and orthochromatic erythroblasts, suggesting early precipitation of an unstable hemoglobin. The lack of demonstrable Hb H may be the result of both diminished amounts of beta(A) available for Hb H formation (since one beta-globin gene is beta(S)) and the greater affinity of alpha-chains for beta(A) than beta(S)-globin chains leading to the formation of relatively more Hb A than Hb S. The presence of a beta(S) gene may thus modify the usual clinical expression of Hb H disease.
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PMID:Modification of hemoglobin H disease by sickle trait. 47 66

In a village population in N. Nigeria the Fulani form a heterogeneous group in comparison with the Hausa and Maguzawa people. It was demonstrated that, apart from having a different body build, Fulani men have on the average lower haemoglobin concentrations, more splenomegaly and higher IgM and IgG concentrations. Splenomegaly and higher IgM levels were correlated in the Fulani only, and this probably is a manifestation of their altered immune response to malaria, which is manifested by the prolonged parasitaemia in Fulani men suggesting that their control over malaria parasites is less effective. Very high IgM levels (more than 9.6 g/l) were present in 6/70 (9%) of Fulani and in none of the others. According to the criteria used the Tropical Splenomegaly Syndrome could be diagnosed in 4/70 (6%) of Fulani and in 2/89 (2%) of Hausa and Maguzawa. A nutritional factor, presumably iron intake, and Schistoma haematobium infections appeared to be determinants of haemoglobin concentration in the Hausa and Maguzawa. In Fulani a different pattern emerged characterised by the nutritional factor and a haemolytic factor related to the sickle cell trait. The frequency of the sickle cell trait, however, was similar in all tribes. The significance of the findings is discussed and it is suggested that the heterogeneity of Fulani is possibly due to their less complete adaptation to stable malaria.
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PMID:Differences in blood status of three ethnic groups inhabiting the same locality in Northern Nigeria. Anaemia, splenomegaly and associated causes. 54 94

Alcohol-related disturbances are seen against the three blood cell systems. They appear after important alcohol consumption within few days and are independent from the existence of liver cirrhosis with splenomegaly. They are promptly and completely reversible after interruption of alcohol supply. Disturbances in erythropoiesis are manifested in bone marrow with megaloblasts, ring sideroblasts, and vacuoles in cytoplasma and nucleus of nucleated red cells. They are caused by folate deficiency and by perturbations of iron utilization, which is perhaps connected with impaired heme synthesis following pyridoxal phosphate deficiency. Serum iron generally increases during alcohol consumption and decreases in the following alcohol-free period. The anemia may be macrocytic and normochromic or dimorphic with hypochromic microcytes. Anemias of hard alcohol drinkers are observed also as consequence of bleeding or hemolysis of different causes. The lability against infections of drinkers is associated with changes in granulopoiesis. The most important findings are granulocytopenia, vacuoles in the immature marrow cells, perturbations in granulopoietic maturation, and decrease of marrow response. Frequently, alcohol drinkers demonstrate thrombocytopenia which is caused by ineffective thrombopoiesis and by shortened life span of platelets as direct effect of ethanol. Functional impairments of thrombocytes have been published, too.
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PMID:[Alcohol-related disturbances in haematopoiesis (author's transl)]. 64 97

Anemia developing during the course of chronic renal disease is a frequent complication often necessitating periodic transfusion therapy. A number of etiologic factors have been implicated, including decreased production of erythropoietin; decreased erythrocyte life span secondary to uremia and splenomegaly; increased bleeding tendency due to platelet dysfunction; and acquired lack of folic acid and iron. This paper concerns the problem of acquired hypochromic, microcytic anemia secondary to heavy urinary loss of iron and transferrin in a child with the nephrotic syndrome. The patient had microcytic, hypochromic anemia with serum iron, 12 mug. per dl. and a serum iron-binding capacity of 12 mug. per dl. There was no evidence of major bleeding resulting in a chronic hemorrhagic anemia. Urinary iron was 64 mug. per dl., with a urinary iron-binding capacity of 366 mug. per dl. Renal biopsy showed mesangio-proliferative glomerulonephritis. Evaluation of any patient with the nephrotic syndrome should include careful analysis of the various serum and urinary proteins and determination of serum and urinary iron and iron-binding capacity. This information would offer a more precise evaluation of the underlying cause of anemia in the nephrotic patient who may develop urinary loss of iron and transferrin and subsequent hypochromic, microcytic anemia.
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PMID:Transferrin loss into the urine with hypochromic, microcytic anemia. 124 90

The most common haematological abnormalities in alcoholism are raised mean corpuscular volume of the erythrocytes and thrombocytopenia. The etiology is multifactorial including malnutrition with folate deficiency, a direct toxic influence of alcohol and sequestration in an enlarged spleen. Sideroblastic anaemia caused by interference of alcohol with the metabolism of pyridoxine is common and so is haemolytic anaemia caused by hypersplenism and megaloblastic anaemia. Leucopenia can be seen and is probably caused by a direct toxic effect of alcohol on the bone marrow. Other potentially toxic changes are impaired chemotaxis, motility and adherence of the granulocytes and impaired blast-transformation of the lymphocytes. In the bone marrow, vacuolized precursors of myelo- and erythropoiesis are seen. The bone marrow may be hypocellular. Other changes in the bone marrow are increased but ineffective erythropoiesis with defective iron metabolism, vacuolized pro-erythroblasts, multinucleated erythroblasts, megaloblasts and iron-containing plasma cells.
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PMID:[Hematological abnormalities in alcoholism]. 150 2

Polycythemia vera (PV) is one of the myeloproliferative diseases, and, as such, is an example of clonal hematopoiesis. The progeny of a single, abnormal, hematopoietic stem cell gain a growth advantage over their normal counterparts resulting in overproduction of red cells generally accompanied by overproduction of granulocytes and platelets as well. There are a variety of nonspecific symptoms at onset related to the increased red cell mass and hematocrit accompanied by the more specific manifestations of pruritus, erythromelalgia, and hepatic, portal, and mesenteric vein thrombosis. Splenomegaly and hypertension are common. The laboratory hallmark is an increased red cell mass. There is also often an increase in white cell count, platelet count, and leukocyte alkaline phosphatase along with other findings reflecting the increased rate of turnover of hematopoietic cells. The bone marrow biopsy generally displays hypercellularity involving all three cell lines and absent iron stores. The diagnosis of PV depends on excluding spurious polycythemia in which there is a high hematocrit but a normal red cell mass and secondary polycythemia in which there is an increased red cell mass in response to tissue hypoxia or the inappropriate production of erythropoietin, generally by a tumor. In addition, one should try to establish the diagnosis in a positive fashion by a combination of studies of the blood and bone marrow. Phlebotomy and occasionally plateletpheresis should be used as acute therapy. Chronic therapy is guided by the knowledge that patients treated with phlebotomy alone have an increased rate of thrombotic complications particularly in older patients and those with previous thrombotic disease. Myelosuppressive therapy can reduce the incidence of these complications, but is commonly associated with an increased incidence of second malignancies, particularly acute leukemia. At present, hydroxyurea is the myelosuppressive agent of choice. Antiplatelet agents have a limited role except in the palliation of the syndrome of erythromelalgia. Median survival is approximately 10 years. As implied above, the causes of morbidity and mortality vary with the mode of chronic therapy which has been employed, leukemia being more common after myelosuppressive therapy and thrombotic complications being more common after therapy with phlebotomy alone. Ten percent to 50% of patients move into a spent phase followed by postpolycythemic myeloid metaplasia, irrespective of previous therapy employed. Eventually, the major problems may be cytopenias and massive splenomegaly.
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PMID:Polycythemia vera. 158 7

The organs associated with plasma volume expansion, i.e., the red bone marrow, the enlarged spleen, and the uteroplacental complex, are arteriovenous shunts with an interposed sinusoidal stroma able to skim off plasma-rich blood. In the spleen, plasma separation is an integral part of the hemoconcentration. In the red bone marrow, plasma skimming might provide a washout mechanism for the many newly formed erythrocytes and platelets from the sinusoids to the peripheral blood circulation. In the uteroplacental complex, skimming of plasma-rich blood is beneficial in increasing blood flow in the myometrium, kidneys, and skeletal musculature. The hypervolemic status with anemia will simulate a negative iron balance, which speeds up the absorption of iron. Thus a conceptual unit seems to exist in which rheological factors influence such functions as transport of newly formed blood cells into the circulation (in the red bone marrow), hemoconcentration (in the spleen), and iron balance during pregnancy (in the uteroplacental complex).
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PMID:Significance of plasma skimming and plasma volume expansion. 162 55

We have used recombinant human erythropoietin (rHuEPO) in a phase I/II clinical trial to evaluate its ability to reverse refractory anemia in hematologic disorders. rHuEPO was administered subcutaneously 5 days per week at escalating doses (50 to 150 U/kg per day). The aim of treatment was a hemoglobin (Hb) level greater than or equal to 10 g/dL without blood transfusion. Of 25 patients treated, 17 were evaluable, most of them with a regular need for transfusion. Eight of these had lymphoproliferative disorders (three cases of malignant lymphoma and five of monoclonal gammopathy) and were exposed to cytotoxic therapy. The other nine patients had hematopoietic stem cell disorders (four cases of myelodysplastic syndrome, three of idiopathic myelofibrosis, and two of chronic myelogenous leukemia). All patients with lymphoproliferative disorder had serum EPO levels inappropriately low for the degree of anemia, while patients with stem cell disorder showed variable values. Erythroid marrow activity was inadequate in all cases. Seven of eight patients with lymphoproliferative disorder responded to treatment maintaining Hb above 10 g/dL without transfusion. The median dose of rHuEPO required for correction of anemia was 75 U/kg. In four cases response was maintained with 50 U/kg, three times per week. There was no complete response among patients with hematopoietic stem cell disorder, although transfusion requirement was eliminated or reduced in four cases. Four patients developed functional iron deficiency during rHuEPO treatment and required iron supplementation to obtain response. Aggravation of splenomegaly was observed in two cases of myeloproliferative disorder. We conclude that: (1) subcutaneous administration of rHuEPO can be effective and safe in patients with lymphoproliferative disorder exposed to chemotherapy and showing inappropriate EPO response to anemia; (2) this is less likely in hematopoietic stem cell disorders, although favorable responses may be observed in occasional patients; and (3) functional iron deficiency as a cause of nonresponse to rHuEPO is frequent also in nonrenal anemia.
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PMID:Subcutaneous erythropoietin for treatment of refractory anemia in hematologic disorders. Results of a phase I/II clinical trial. 163 33


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