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

X-linked sideroblastic anemia is a genetic disorder characterized by a hypochromic microcytic anemia of variable intensity with the presence of ring sideroblasts in the bone marrow of the patients. Two different mutations have been reported in the ALAS2 gene in patients with this disease. We have studied a large kindred with a pyridoxine-sensitive form of X-linked sideroblastic anemia. Sequencing amplified cDNA of the proband revealed a guanine-to-adenine change at nucleotide 871 of the coding sequence (exon 7 of the gene). This results in a glycine to serine substitution that is responsible for a marked decrease in the enzymatic activity of the mutated protein. A polymerase chain reaction assay demonstrated the presence of the same mutation in three affected males and two female carriers in the kindred. The carrier status was excluded in eight females at risk. Early detection of the mutant allele in family members may thus be important for the prevention of anemia in males and of iron overload both in affected males and carrier females.
 ...
PMID:A new mutation of the ALAS2 gene in a large family with X-linked sideroblastic anemia. 770 39

Coeliac disease occurs more commonly in children with insulin-dependent diabetes mellitus (IDDM) than in the general population, but the prevalence of coeliac disease in adults with diabetes is unknown. We therefore screened an adult hospital-based diabetic population using IgA antigliadin antibody (IgA-AGA) to identify those patients requiring intestinal biopsy. In 1 year, 1789 patients (43% IDDM, 57% NIDDM) were screened, and 73 had raised IgA-AGA. Of these patients, 49 agreed to duodenal biopsy and 13 (10 IDDM) had coeliac disease. Selective IgA deficiency was found in eight patients, one of whom had coeliac disease. Of these 14 patients with newly diagnosed coeliac disease, four had microcytic anaemia, nine a low serum ferritin, and four a low albumin-corrected calcium. Eight patients had symptoms which improved on gluten withdrawal. Dietary compliance was maintained in 6/8 symptomatic patients, but only in 1/6 without symptoms. Included in the 1789 patients were four (all IDDM) with known coeliac disease. The overall prevalence of coeliac disease in adult patients with IDDM was 1:50 compared with 1:340 in NIDDM. Coeliac disease is common in adults with IDDM and may cause malabsorption and ill health. It should be suspected in any IDDM patient with gastrointestinal symptoms or unexplained anaemia.
 ...
PMID:The prevalence of coeliac disease in adult diabetes mellitus. 798 59

Mice homozygous for the mk mutation have a severe hypochromic, microcytic anemia that is characterized by a decreased mean-corpuscular hemoglobin concentration and balanced alpha- and beta-globin-chain synthesis. Transplantation studies have shown that the defect in homozygous mk/mk mice is intrinsic to both the hematopoietic system and the gut. The gene for the hematopoietic-specific transcription factor, p45 NF-E2, has been found to cosegregate with the mk phenotype and contain a point mutation in mk/mk mice that results in an amino acid substitution (173V-->A). In order to test the hypothesis that this amino acid substitution is responsible for the mk phenotype, we have used recombinant retroviruses to introduce wild-type p45 NF-E2 into the bone marrow of mk/mk mice. Despite gene transfer and expression of p45 NF-E2 in erythroid cells, we found no evidence for correction of the phenotype in mk/mk mice. These results indicate that the mk mutation cannot be corrected by enforced expression of wild-type p45 NF-E2 and suggest that the 173V-->A mutation of the p45 NF-E2 gene is not the cause of anemia in mk/mk mice.
 ...
PMID:Microcytic anemia in mk/mk mice is not corrected by retroviral-mediated gene transfer of wild-type p45 NF-E2. 799 73

A study of the effects of malaria infection on the progress and outcome of pregnancy was carried out during 1987-88 in the Medical College Hospital, Surat, Gujarat. Pregnant women were highly susceptible to the infection (SPR, 57.7) compared to the general population (SPR, 18.6). P. falciparum infection was predominant (62.4%). The infection rate was also found to be higher (SPR, 72.2%) in second trimester compared to first and third semesters. Primigravidae seemed to be at a greater risk as the mean parasitaemia level was higher (39%) and the outcome poor as compared to multigravidae (29%). Infection during pregnancy caused severe maternal complications like abortion (9.7%), premature labour (59.6%), and still-births (5.7%), which were higher in P. falciparum infection. Microcytic anaemia combined with dimorphic anaemia was predominant in the infected group (89.5%). Cord blood in 4 cases and on baby's blood were found positive for malaria parasite, showing transplacental passage of malaria parasites, which is rare. The infection was found to have a definite bearing on the low birth weight of babies. Chemoprophylaxis could obviate much of the complications.
 ...
PMID:Effects of malaria infection on pregnancy. 803 9

Mild microcytic anemia (without changes in mean corpuscular hemoglobin concentration, MCHC) was discovered 6-14 weeks after a single s.c. administration of 4 mg of particulate glucan to C57BL/10ScSnPh mice serologically positive for murine hepatitis (MHV). The anemia was associated with granulocytosis, decreased body weight and spleen hypertrophy. The overall intensity of erythropoiesis was measured by 59Fe-incorporation into the heme of erythropoietic organs. The localization of erythropoiesis became markedly redistributed--heme production was suppressed in the bone marrow while a several-fold increase was recorded for the spleen. A new steady state was also discovered in ferrokinetics: an iron pool localized away from the blood, erythropoietic organs and the liver was significantly elevated, and hypoferremia was detected. Anemia and wasting of mice were not observed in the same mouse strain free of MHV. A single administration of particulate glucan resulted in late impairment of red blood cell formation in the C57BL/10ScSnPh mouse strain infected with the mouse hepatitis virus. The anemia shares a number of features with those observed for the anemia of chronic diseases.
 ...
PMID:Microcytic anemia and changes in ferrokinetics as late after-effects of glucan administration in murine hepatitis virus-infected C57BL/10ScSnPh mice. 815 May 55

Apparently healthy persons (n = 425) as well as 264 patients characterized by an iron concentration in serum < 7.2 mumol/l were examined. A latent iron deficiency was defined as a concentration of ferritin < 20 micrograms/l (males) and < 15 micrograms/l (females), without anaemia; manifest iron deficiency defined by an additional presence of hypochromic microcytic anaemia. Fifty-nine of 425 (= 14%) apparently healthy persons showed a latent iron deficiency. In the remaining 366 we established the following reference intervals for the concentration of transferrin in serum [mumol/l]: 25.2-45.3 (males), 29.1-54.5 (females, < or = 25 years of age) and 25.3-48.6 (females, > 25 years of age). Eight of 59 (= 14%) apparently healthy persons with latent iron deficiency had a transferrin concentration above the reference interval. Sixty-one of 264 (= 23%) patients with an iron concentration < 7.2 mumol/l showed a ferritin concentration < 20 micrograms/l (males) and < 15 micrograms/l (females). Thirty-eight of these 61 patients (= 62%) had a manifest iron deficiency. In 18 of these 38 patients (= 47%) the transferrin concentration was increased. For our 264 patients we determined the diagnostic validity of an increased transferrin concentration for diagnosis of iron deficiency, assuming an iron deficiency if the concentration of ferritin remained below the discrimination values mentioned above: The diagnostic sensitivity was 36%, the diagnostic specificity 97%, the predictive value of the positive test result 79% and the predictive value of the negative test result 83%.(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:Efficacy of transferrin determination in human sera in the diagnosis of iron deficiency. 816 89

The purpose of this study was to evaluate the role of same-day upper and lower endoscopy in patients investigated for non-acute gastrointestinal bleeding, manifested by occult bleeding, melena, or hematochezia and/or anemia suspected to be caused by gastrointestinal bleeding. A total of 224 patients, 127 women and 97 men, were reviewed. A potential bleeding source (PBS) in the upper gastrointestinal tract could have been missed in 25% of the patients if only colonoscopy had been performed. In nearly the same proportion of patients (26%) a potential bleeding source could have been missed if only esophagogastroduodenoscopy had been performed. Nine per cent of the patients had a potential bleeding source in both locations. Forty-six per cent (19 of 41) of the patients with a PBS in colon, other than colonic cancer, had a PBS also in the upper gastrointestinal tract. The chance of finding a potential bleeding source in patients with microcytic anemia and positive Hemoccult test is threefold higher than for the patients with microcytic anemia and negative Hemoccult test and twofold higher than in patients with normal blood hemoglobin value but positive Hemoccult test. Moreover, 22% (8 of 36) of the patients with microcytic anemia and a positive Hemoccult test had colonic carcinoma. Approximately 30% of the patients with a PBS had two or more PBSs in one or more organs. Eighteen per cent of 43 patients with a history of upper gastrointestinal symptoms had a PBS in the upper gastrointestinal tract. The corresponding figure for the patients without a history of upper gastrointestinal symptoms was 29%.(ABSTRACT TRUNCATED AT 250 WORDS)
 ...
PMID:Same-day upper and lower endoscopy in patients with occult bleeding, melena, hematochezia, and/or microcytic anemia. A retrospective study of 224 patients. 821 Sep 79

The effects of acute poisoning by cupric sulfate in a number of species are well known; however, the effects of chronic low-level ingestion of cupric sulfate are less well characterized. Because exposure of humans to cupric sulfate may occur through drinking water, food, soil, or ambient air, subchronic toxicity studies were conducted in male and female F344/N rats and B6C3F1 mice by the drinking water (2-week exposure) and dosed feed (2- and 13-week exposure) routes. Animals were evaluated for histopathology, clinical pathology, reproductive toxicity, and tissue metal accumulation, and target organs were examined by a variety of special stains and by electron microscopy to characterize the observed lesions. In drinking water, cupric sulfate concentrations of 300 to 100 ppm produced no ill effects, whereas concentrations of 3000 to 30,000 ppm were lethal to rats and mice within 2 weeks. In feed, cupric sulfate concentrations of 4000 to 16,000 ppm caused significant reductions in body weight gain in both species in the 2- and 13-week studies. Hyperplasia and hyperkeratosis of the limiting ridge of the forestomach were present in both species in the 2- and 13-week studies. Rats in the dosed feed studies had a dose-related increase in inflammation in the liver and changes in clinical chemistry parameters which were indicative of hepatocellular damage and cholestasis. Histologic changes in the kidneys of rats consisted of a dose-related increase in the number and size of eosinophilic protein droplets in the epithelial cytoplasm and the lumina of the proximal convoluted tubules. Droplets were larger and more numerous in males than in females. Urinalysis results were suggestive of renal tubular epithelial damage. Iron staining of spleens from treated animals indicated a marked depletion of iron stores in both male and female rats, but not in mice, while hematologic and clinical chemistry alterations in rats in the 13-week study, along with histologic changes in bone in the 2-week dosed feed study, were indicative of a microcytic anemia. Cupric sulfate produced no adverse effects on any of the reproductive parameters measured in rats or mice of either sex. These results indicate that cupric sulfate at high exposure levels is a hepatic and renal toxicant, as well as an inducer of anemia in rodents, with rats more sensitive than mice following subchronic exposure.
 ...
PMID:Subchronic toxicity of cupric sulfate administered in drinking water and feed to rats and mice. 825 99

The relative excess of alpha- over beta-globin chains in the erythroid precursors is the chief pathophysiological factor of homozygous beta-thalassemia. The clinical picture is usually characterized by a transfusion-dependent dyserythropoietic anemia (thalassemia major). However, some patients present with moderate anemia that does not require regular blood transfusions (thalassemia intermedia). The molecular heterogeneity of beta-thalassemia mutations and changes of alpha- and gamma-globin gene expression play an important role in modifying the clinical phenotype. We report here on a female Greek patient with homozygous beta-thalassemia but normal growth and development, excellent exercise tolerance, and no need of blood transfusions. She is thus mildly affected clinically, although there is marked pallor, jaundice, and hepatosplenomegaly. These signs correspond to her marked hypochromic, microcytic anemia with erythroid hyperplasia of the bone marrow. beta-Globin genotyping shows here to be compound heterozygous for the codon 39 C-->T beta zero-nonsense mutation and for the T-->C beta(+)-mutation at position 6 of the splice consensus at the exon 1/intron 1 junction (CD39 C-->T/IVS1-6 T-->C). alpha-Globin gene mapping demonstrates the presence of a 3.7-kb alpha (+)-thalassemia deletion on one allele (-alpha 3.7/alpha alpha). Taken together, this study identifies a complex interaction of genetic factors that do not significantly alter the clinical phenotype when present alone but ameliorate the course of homozygous beta-thalassemia when inherited in combination.
 ...
PMID:Thalassemia intermedia: compound heterozygous beta zero/beta(+)-thalassemia and co-inherited heterozygous alpha(+)-thalassemia. 843 22

Two siblings were identified with severe hypoproliferative microcytic anemia and iron malabsorption, in the absence of any gastrointestinal disorder or blood loss. These children had severe microcytosis (MCV 48 fl, hemoglobin 7.5 g/dl) with decreased serum iron, elevated serum TIBC, and decreased serum ferritin, despite prolonged treatment with oral iron. An iron challenge study with an oral dose of 2 mg/kg elemental iron as ferrous sulfate documented iron malabsorption. After treatment with intravenous iron dextran, there was an absence of the expected reticulocytosis and only a partial correction of the hemoglobin, hematocrit, and microcytosis. The bone marrow was hypocellular with abnormal iron incorporation into erythroid precursor cells. This appears to be a rare form of inherited anemia characterized by iron malabsorption and disordered iron metabolism that only partially corrects after the administration of parenteral iron. These features resemble those found in the microcytic mouse (mk/mk), which also has severe microcytic anemia and iron malabsorption that partially responds to parenteral iron.
 ...
PMID:Microcytic anemia with iron malabsorption: an inherited disorder of iron metabolism. 949 83


<< Previous 1 2 3 4 5 6 7 8 9 10 Next >>