Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002871 (anemia)
 52,094 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Spontaneous cholelithiasis was found in seven owl monkeys (Aotus spp.) at necropsy. There were four male and three female animals. Antemortem clinicopathologic findings included weight loss, anemia, increased alanine aminotransferase and gamma glutamyl transpeptidase, and hyperbilirubinemia in several animals. Choleliths ranged in size from sand-like particles to 5 mm in diameter. Gallstones from five animals were analyzed by accepted analytical methods. Results showed the gallstones to be composed primarily of cholesterol (89%). The gallbladder was histologically normal in all cases examined. The etiopathogenesis of cholelithiasis in the owl monkey is unknown.
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PMID:Cholelithiasis in owl monkeys: seven cases. 217 29

Sickle-cell anemia results from an A leads to T transversion in the second nucleotide of codon 6 of the beta-globin gene. We now report an uncommon beta-thalassemia gene that contains a deletion of this nucleotide. Thus, one mutation (GAG leads to GTG) produces sickle-cell anemia, while the other (GAG leads to GG) eliminates beta-globin production. These data establish that different alterations affecting one specific nucleotide can produce either an abnormal hemoglobin or beta-thalassemia. Moreover, the nucleotide sequence comprising codons 6-8 of the beta-globin gene appears to be particularly susceptible to mutations affecting nucleotide number.
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PMID:beta-Thalassemia due to a deletion of the nucleotide which is substituted in the beta S-globin gene. 631 Sep 91

We studied a 26-year-old Portuguese patient with recessively transmitted hereditary hemolytic anemia. Protein 4.2 was absent from red cell ghosts by Western blotting. Although the 4.2 mRNA was not detected in Northern blots, it was shown to be present by a procedure based on nested reverse transcription-polymerase chain reaction (RT-PCR). Partial nucleotide sequencing disclosed a one-nucleotide deletion at nt 264 (or 265): AAG GTG-->AAG TG, in codon 88 (or 89) belonging to exon 2. This change, defining allele 4.2 Lisboa, placed in frame the nonsense triplet that normally overlaps codons 136 and 137 (GTG ACC). This mutation, which abolishes an EcoNI site, was also found in the gene of the proband (homozygous state), her parents, and her brother (heterozygous state). Apart from anemia, the patient was free of clinical manifestations. Platelet membranes were also investigated using Western blots. Antibodies to red cell protein 4.2 showed a doublet (72 and 70 kD) both in the controls and the patient. This finding raises an interesting question concerning the relationship between this doublet and erythroid protein 4.2.
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PMID:A deletional frameshift mutation in protein 4.2 gene (allele 4.2 Lisboa) associated with hereditary hemolytic anemia. 780 99

We have identified a valine-->methionine mutation at position 67 of the beta chain in the hemoglobin of a young Russian patient with severe hemolytic disease, anemia, splenomegaly, Heinz body formation, and continued requirement for blood transfusions despite an early splenectomy. Sequencing of amplified DNA readily identified a GTG-->ATG mutation at codon 67. The introduction of the larger methionine residue into the heme pocket, and the loss of the bonds between valine at beta 67 and the heme group, adequately account for the severe instability of Hb Alesha and the serious clinical condition of its carrier.
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PMID:Hb Alesha or alpha 2 beta (2)67(E11)Val-->Met: a new unstable hemoglobin variant identified through sequencing of amplified DNA. 833 Sep 74

The results of liver function tests and ultrasonographical findings were analysed in 7 dogs that were intravenously injected dimethylnitrosamine (DMNA 2 mg/kg body weight) on 2 consecutive days each week for 10 weeks. Typical clinical signs and similar changes in liver enzyme concentrations that develop in dogs with natural cirrhosis were observed in this canine model. Severe anaemia and a significant reduction in the platelet numbers occurred in the dogs that died in the 5th week, while in all the other dogs these parameters decreased slightly. Serum total protein and the albumin/globulin ratio decreased gradually while the alkaline phosphatase, alanine amino transferase, aspartate amino transferase and gamma glutamyl transpeptidase activities increased significantly (p < 0.05) in all dogs after beginning the administration of DMNA. Ultrasound findings of a coarsened and heterogeneous echo pattern with increased echogenicity that are characteristic of canine cirrhosis were noticed at the same time when the changes in liver enzymes became evident. Present results suggest that ultrasonography in conjunction with liver function tests may be useful in the evaluation of experimentally induced liver cirrhosis.
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PMID:Ultrasonography, biochemical and hematological profiles in liver disease caused by intravenous administration of dimethylnitrosamine in dogs. 943 16

We present a new case of hepatic sinusoidal dilatation associated to giant lymph node hyperplasia or Castleman's disease in a 23-year-old patient with xanthelasmas and history of celiac disease. He presented with weight loss, hepatomegaly, periorbital xanthomas, anemia, accelerated erythrosedimentation rate, hypoalbuminemia, hypergammaglobulinemia at the expense of immunoglobulin G (IgG), high titers of autoantibodies, and increase of serum alkaline phosphatase and gamma glutamyl transpeptidase activity. A liver biopsy showed sinusoidal dilatation. Fifteen months later, a computed axial tomography showed a retroperitoneal tumor that turned out to be a giant lymph node hyperplasia. After resection of the tumor all clinic and biochemical manifestations had faded, suggesting an association between xanthelasmas, Castleman's disease, sinusoidal dilatation, and celiac disease. A humoral factor produced by the lymph tumor of the patient may have been responsible for the immunologic alterations he presented.
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PMID:Hepatic sinusoidal dilatation associated to giant lymph node hyperplasia (Castleman's): a new case in a patient with periorbital xanthelasmas and history of celiac disease. 970 77

Three red kangaroos (Megaleira rufus), an adult male, an adult female, and a yearling, were exposed in bedding and food to coastal bermuda hay that contained the toxic plant Lantana camara. The adult male exhibited signs of anorexia, depression, lethargy, and jaundice. The adult female was presented dead. After 1 wk, following exposure to sunlight, the adult male and a yearling joey developed exudative dermatitis of the ear margins, eyelids, muzzle, and scrotum and opacity of the corneas. The adult male had a leucocytosis, anemia, bilirubinemia, bilirubinuria, hyperproteinemia, and elevated alanine aminotransferase, gamma glutamyl transpeptidase, alkaline phosphatase, and bile acid serum levels. Postmortem examination of the adult male revealed jaundice, and the liver was swollen, mottled, and pale yellow to reddish yellow. The gall bladder was markedly distended. Histopathologically, there was hepatocellular enlargement with vesiculation of the nuclei and sporadic feathery degeneration of the cytoplasm. The yearling joey survived and was treated symptomatically with i.v. fluids and antibiotics. The history, clinical signs, diagnostic findings, necropsy findings, and exposure to the toxic plant Lantana camara support the diagnosis of secondary photosensitization and hepatoxicity.
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PMID:Hepatotoxicity and secondary photosensitization in a red kangaroo (Megaleia rufus) due to ingestion of Lantana camara. 973 38

VRCTC-310-ONCO, an agent based on the snake phospholipase A2 (crotoxin), is currently under clinical development. After phase I study in patients by intramuscular administration, the interest of intravenous (IV) dosing arose. To evaluate IV administration of VRCTC-310-ONCO in rabbits, ten animals were subjected to surgical implant of fixed jugular catheter, by which they received daily IV doses of 0.03 mg/kg body weight of VRCTC-310-ONCO for 30 days (n = 8) or saline (n = 2). The procedure was well tolerated in all rabbits. One of the animals died after the sixth dose of VRCTC-310-ONCO with CNS involvement; two additional rabbits required dose-reduction. All other rabbits achieved 30 days of treatment and were sacrificed. All rabbits (even controls) developed lymphocytosis and mild anaemia, without changes in blood neutrophils. No changes were found in serum transaminases (GOT and GPT), cholesterol, triglycerides, and y-glutamyl transpeptidase. At necropsy, chronic granulation tissue was found surrounding the implant in all rabbits. VRCTC-3 10-ONCO-treated rabbits presented generalised and marked swelling of hepatocytes, with areas of cytoplasmic vacuolisation. No abnormalities were found in kidney, heart, lung, spleen, adrenal gland, uterus, testes and ovary. Additional studies with IV route for VRCTC-310-ONCO, including humans, are required to define its toxicity in the clinical setting.
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PMID:30-day intravenous administration of VRCTC-310-ONCO in rabbits. 1190 59

Thalassemias are the most common hereditary diseases in Iran, resulting from synthesis defects in one or more hemoglobin (Hb) subunits. The majority of patients suffer from beta-thalassemia (thal), but cases with microcytic hypochromic anemia and normal electrophoretic patterns are suspected to have alpha- or silent beta-thal. A family from the northern part of Iran, an area highly prevalent for thalassemias, was referred to us for prenatal diagnosis. The hematological data of the father indicated a pattern of beta-thal minor. Reverse hybridization analysis for the most common beta-globin mutations identified IVS-II-1 (G-->A) in the heterozygous state. The maternal laboratory data indicated a case more compatible with alpha-thal. Iron deficient anemia was ruled out, and common alpha-thal point mutations and deletions were investigated. As no mutation was detected, chain synthesis was performed and showed an alpha/beta chain ratio of 2.1, that was in the range of beta-thal minor. DNA sequencing of the entire beta-globin gene identified a heterozygous GTG-->GGG (Val-->Gly) mutation at codon 126, also known as Hb Dhonburi (Neapolis). Prenatal diagnosis of the fetal DNA showed the absence of the IVS-II-1 and codon 126 anomalies. This result demonstrates the importance of screening of individuals with mild microcytic hypochromic anemia for both alpha- and silent beta-thal mutations.
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PMID:Hb Dhonburi (Neapolis) [beta126(H4)Val-->Gly] identified in a family from northern Iran. 1565 93

The myelodysplastic syndrome (MDS) represents a group of clonal hematological disorders characterized by progressive cytopenia reflecting defects in erythroid, myeloid and mega karyocytic maturation. The incidence of MDS is greter in older age groups. Detailed studies on MDS from India are not available. Cytogenetic study using GTG-banding and FISH revealed 54.5% clonal chromosomal abnormalities. We have carried out chromosomal breakage study from peripheral blood cultures induced with mitomycin C, in karyotypically normal MDS (49) and 15 (30.6%) showed significant (p < 0.001) increase in chromosome damage compared to controls. Among 22 occupationally exposed MDS, 6 (27.3%) showed a high frequency of chromosome breakage while in the non-exposure (n=27) group, high chromosome breakage was noted in 9 (33.3% ) MDS patients. Our results suggest that the high chromosome damage may be due to acquired Fanconi anemia which leads to multiple defects in chromosomes and clonal chromosome anomalies.
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PMID:Chromosomal breakage in myelodysplatic syndrome. 1843 95


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