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)

Generally, individuals who are heterozygous to haemoglobin S (Hb AS) are asymptomatic and do not present any haematological or clinical manifestations. However, other associated genetic abnormalities may influence the presentation in Hb AS cases. This study was conducted on twenty children heterozygous for HB S who presented clinical manifestations similar to those of sickle cell anaemia. All these children had anaemia associated with several red cell morphological abnormalities. The white blood cell counts were elevated in all patients and differential count studies showed a substantial increase in lymphocytes and polymorphonuclear leucocytes in the majority of the cases. Forty-five per cent of the patients had associated alpha-thalassaemia, 60 per cent had beta-thalassaemia, 30 per cent had G-6-PD deficiency and 10 per cent had partial glutathione reductase deficiency. Pyruvate kinase activity was normal in all cases. Riboflavin deficiency was encountered in 30 per cent of the patients and iron deficiency in 15 per cent of these Hb S heterozygotes. The major clinical findings were splenomegaly, hepatomegaly, and vaso-occlusive crisis. The majority of the patients had received blood transfusions. The hand and foot syndrome was identified in three (15 per cent) of the patients. The haematological and clinical findings in these twenty Hb S heterozygotes are presented in this paper and the possible causes for these abnormalities are discussed.
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PMID:Case studies on haemoglobin S heterozygotes with severe clinical manifestations. 228 93

Trypanosoma brucei EATRO 110 infection in deer mice (Peromyscus maniculatus) produced anemia in 15 of 42 mice between postinoculation days 14 and 70. The infected anemic (IA) mice had significantly higher reticulocyte counts (P less than 0.025), spleen (P less than 0.001) and liver (P less than 0.005) weights, and higher parasitemia than did infected nonanemic (INA) mice. gamma-Globulin concentrations of infected mice were markedly increased, and values for INA mice were 10% higher than values for IA mice. Erythrocyte hexokinase, glucose-6-phosphate dehydrogenase, glutathione peroxidase, glutathione reductase, and pyruvate kinase activities were increased in infected mice, whereas phosphofructokinase was only slightly decreased in infected mice. Seemingly, development of anemia was not related to defects in erythrocyte metabolism. Serum iron values of infected mice were similar to those of controls. Storage iron (hemosiderin and ferritin) concentrations were increased in the spleen and to a lesser extent in the liver. The activity of superoxide dismutase, an enzyme that favors conversion of easily mobilized soluble ferritin to poorly mobilized insoluble hemosiderin, was decreased per unit weight of the enlarged spleen, although total activity was increased. The superoxide dismutase activity per unit weight of liver was not altered in infected mice although total liver activities were increased. These findings, as well as the marked reticulocytosis, indicate that lack of iron supply does not have a part in precipitating the anemia of T brucei infection. Leukocytosis was present in infected animals and was associated with lymphocytosis, eosinopenia, basophilia, and monocytosis; these changes were more marked in IA than in INA mice.
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PMID:Pathogenesis of Trypanosoma brucei infection in deer mice (Peromyscus maniculatus): hematologic, erythrocyte biochemical, and iron metabolic aspects. 686 60