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)

Clinical and haematological features in 41 patients with sickle cell-beta0 thalassaemia (Sbeta0 thalassemia) and in 123 age--sex matched controls with homozygous sickle cell (SS) disease were compared. Persistence of splenomegaly was more common and fetal loss less common in Sbeta0 thalassemia but other clinical features were similar in the two genotypes. Total haemoglobin, Hb A2, PCV, CCV, and red cell count were significantly higher and MCV, MCH, MCHC, and ISC counts significantly lower in Sbeta0 thalassaemia. Proportional reticulocyte counts were significantly lower in Sbeta0 thalassaemia but there was no difference in absolute reticulocyte counts. Persistence of splenomegaly and low ISC counts are compatible with decreased intravascular sickling which may result from the lower mean cell haemoglobin S concentration in Sbeta0 thalassaemia. If beneficial effects of a low MCHC can be confirmed then a carefully monitored trial of iron deficiency in SS disease may be a logical experimental procedure.
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PMID:Comparison of sickle cell-beta0 thalassaemia with homozygous sickle cell disease. 42 Jul 38

Clinical and haematological findings of 164 Turkish beta-thalassaemic heterozygotes with increased Hb-A2 are presented. The series comprised of 19 children, 81 females and 64 males. The majority of these thalassaemic individuals were asymptomatic and only 4 of them had slight or moderate splenomegaly. The mean values of haemoglobin concentration, PCV, MCH and MCHC were significantly lower than those of the corresponding normal controls. Erythrocytosis was present in 33% of them. Hb-A2 values ranged between 3.8 and 6.1%, and between 3.8 and 6.5% as assessed by the methods of DEAE- or DE-cellulose chromatography, respectively. Hb-F was found to be above the normal range in 15.1%. It is established that beta-thalassaemia with increased Hb-A2 is the most frequent variety of thalassaemia in Turkey (80%) and both beta+- and beta0-thalassaemia genes were present in this country. The regional distribution of beta-thalassaemia in Turkey is also presented and the origin of beta-thalassaemia genes in Turkish people is discussed.
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PMID:beta-Thalassaemia with increased haemoglobin A2 in Turkey. A study of 164 thalassaemic heterozygotes. 48 27

Haematological and clinical characteristics have been examined in 30 patients with homozygous sickle cell (SS) disease, 28 with sickle cell-beta zero thalassaemia, and 21 with sickle cell-beta+ thalassaemia. The latter could be divided into three groups on their molecular basis and HbA levels, four subjects with an IVS-2 nt 745 mutation having 3-6% HbA (designated S beta+ thalassaemia type I), 14 subjects with an IVS-1 nt 110 mutation having 8-15% HbA (designated S beta+ thalassaemia type II), and three subjects with an IVS-1 nt 6 mutation having 20-25% HbA (designated S beta+ thalassaemia type III). Comparisons were conducted between SS disease, S beta zero thalassaemia, and S beta+ thalassaemia type II. Compared to SS disease, both thalassaemia syndromes had higher HbA2 levels and red cell counts and lower mean cell haemoglobin content (MCHC), mean cell volume (MCV) and MCH, and S beta zero thalassaemia had higher HbF and reticulocyte counts. Compared to S beta zero thalassaemia, S beta+ thalassaemia had a higher haemoglobin and MCHC. Clinically, persistence of splenomegaly was more common in S beta zero and S beta+ thalassaemia type II compared to SS disease. Few significant differences occurred between SS disease, S beta zero and S beta+ thalassaemia type II in Northern Greece suggesting that the 8-15% HbA in the latter condition was insufficient to modify the clinical course.
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PMID:A comparison of sickle cell syndromes in northern Greece. 201 64

A clinical and haematological study of 75 patients with beta-thalassemia/haemoglobin E (HbE) in Vietnam is described. The clinical picture is similar to thalassemia major. Anemia is often severe, haemoglobin was 5.0 +/- 1.6 g/dl. Splenomegaly was almost consistently detected. Haemochromatosis was clear. Both red cell indices and morphology showed hypochromicity and microcytosis, the MCH was 23.3 +/- 2.9 pg, the MCV was 81.5 +/- 11 fl; anisocytosis, poiklocytosis, tear drop cells, leptocytosis, target cells, and polychromasia were always observed. The osmotic fragility of erythrocytes was increased. The erythrocytic lifespan was shortened, about 7-15 days and the erythrocytes were destroyed in the spleen in 63 per cent of cases. Depending on whether it was beta(+)-thalassemia/HbE or beta(0)-thalassemia/HbE, HbF ranged from 22.8 +/- 7.2 to 57 +/- 12.7 per cent; HbE from 30.1 +/- 12.2 to 42.7 +/- 13 per cent; and HbA1 was decreased down to from only 46.8 +/- 13.5 to 0 per cent.
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PMID:Beta-thalassemia/haemoglobin E disease in Vietnam. 231 82

The alpha globin genotype of a total of 282 Indians from Orissa state has been analyzed. The overall alpha thalassemia gene frequency is 0.29, most frequently caused by the -alpha 3.7 and -alpha 4.2 deletions. In one family a novel -alpha 3.5 deletion removing the alpha 1 globin gene with some of its flanking sequences has been found, suggesting further sequence homology of the alpha globin gene cluster 3' to the alpha 1 globin gene. Patients with sickle cell disease and alpha thalassemia had higher hemoglobin (Hb) levels, RBC counts, and Hb A2 levels, and lower reticulocyte counts, MCV, MCH, and Hb F levels than those with a normal alpha genotype. The frequency of splenomegaly was not influenced by the alpha globin genotype. A higher prevalence of alpha thalassemia was found in patients greater than or equal to 10 years of age than in the younger group, suggesting a possible advantageous effect of alpha thalassemia on the survival of patients with sickle cell disease.
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PMID:The molecular basis of alpha thalassemia in India. Its interaction with the sickle cell gene. 282 16

Mother, father (26 y.o.) and their only child (5 y.o.) developed nonproductive cough, fever (39.5 to 40.4 degrees C) and bilateral pulmonary infiltrates within three weeks. In addition the mother developed a small left pleural effusion and a pericardial effusion, a relative bradycardia, a pruritic vesicular exanthem of the extremities and the trunk, an erythema nodosum and arthritis of the tarsal joints. The father's coulter counter red blood count was distorted by microagglutination at room temperature (hemoglobin 13.2 gr/dl; erythrocytes 1,91 X 10(6) mm-3 and MCH 69.1 pg; MCV 120 fl and hematocrit 23.8%) but not at 37 degrees C (13.2; 4.15 and 31.8; 92 and 39.3, respectively). In the daughter myringitis, pharyngitis, cervical lymphadenopathy and splenomegaly were observed. Cold agglutinins and serologic evidence for mycoplasma pneumoniae infection were demonstrable in all three. Treatment with Tetracycline (parents) and Erythromycin (child) was effective.
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PMID:[Familial Mycoplasma pneumonia. The varied picture of pulmonary and extrapulmonary manifestations]. 311 25

Inspite of its non-inclusion in the prescribed list of food colors, orange II is extensively employed to color a variety of foodstuffs. Oral LD50 value of orange II in both male and female rats was calculated to be more than 10.56 g/kg body weight. In short-term studies, animals were exposed to diets containing 0.0 (control), 0.1, 0.5 or 3.0% (w/w) of orange II, daily for 90 days. Hematological examination revealed a slight decrease in erythrocyte count and hemoglobin content, whereas leucocyte count, PCV, ESR, MCV, MCH and MCHC showed normal values. There was no change in the activities of LDH, GOT, GPT, alkaline/acid phosphatases and bioconstituents, lactic acid, cholesterol and protein in serum as well as in liver, indicating normal functioning of the liver. Histopathological examination of various body organs such as liver, heart, lung, kidney, testes, adrenal, stomach, large and small intestine presented normal appearance. Animals receiving 3.0% orange II showed marked splenomegaly and deposition of Perl's positive iron pigments. Testicular LDH, hyaluronidase and lactic acid did not reveal any deviation from controls, suggesting normal spermatogenic process. No changes in testicular cholesterol, fructose content of coagulating glands and dorso-lateral prostate, and activities of alkaline phosphatase in seminal vesicle and acid phosphatase in ventral prostate support normal androgenic status.
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PMID:Acute and short-term toxicity studies on orange II. 362 8

Various haematological parameters were followed in a group of 47 Kenyan patients with visceral leishmaniasis during treatment and follow up. The WBC and platelet numbers were normal by the time of cure, the Hb level took longer to become normal. Red cells were microcytic and hypochromic. MCV and MCH increased during follow up but microcytosis persisted up to a year after cure. Low serum iron and transferrin concentration, low total iron binding capacity and normal to high serum ferritin levels were found in 10 patients and are consistent with 'anaemia of chronic inflammation'. Bone marrows of 15 patients before treatment were normo- to hypercellular with increased erythropoietic activity. Low haemosiderin content of the bone marrow was consistent with iron deficiency, but normalization of Hb without iron suppletion would argue against a major role of iron deficiency. Coagulation studies did not indicate diffuse intravascular coagulation. Splenomegaly seems the most important factor in the causation of the pancytopenia. Further studies of contributing factors and of the cause and mechanism of 'hypersplenism' are needed.
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PMID:Haematological investigations in visceral leishmaniasis. 381 Aug 41

Full blood counts and some serum biochemistry were carried out on 349 male and 22 female apparently healthy Papua New Guinea subjects, most of whom were highlanders. In males, RBC, Hb, PCV, MCH, MCHC, serum albumin, ferritin, iron, per cent transferrin saturation and folate means were significantly lower than the Australian normal means; WBC and MCV means were similar to Australian values; and eosinophil and reticulocyte counts and serum transferrin and vitamin B12 means were higher than Australian means. In females, WBC, RBC, Hb, PCV, MCV, MHC, MCHC and serum ferritin means were lower than Australian means; eosinophil counts, serum iron, per cent transferrin saturation, and folate means were similar to Australian means; and serum transferrin and B12 means were higher than the Australian means. Hepatomegaly and mild splenomegaly were common. beta-Thalassemia was present in three subjects two of whom were from Simbu Province.
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PMID:Some haematological and physical characteristics of a group of Papua New Guinea highlanders. 694 72

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


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