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)

Possible latent psychological and social consequences ensuing from genetic screening programs need to be investigated during the planning phase of national genetic screening programs. The relatively few studies which have been performed to determine psychological, social, and economic consequences resulting from a genetic screening program are reviewed. Stigmatization of carrier-status, having major psychosocial implications in heterozygote genetic screening programs, is discussed and related to Erving Goffman's work in the area of stigmatization. Questions are raised regarding the relationship between such variables as religiosity and sex of the individual and acceptance of the status of newly identified carrier of a mutant gene. Severity of the deleterious gene and visibility of the carrier status are two important factors to consider in an estimation of potential stigma. Specific implications are discussed for four genetic diseases: Tay-Sachs, Sickle-Cell Anemia, Huntington's disease and Hemophilia.
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PMID:Stigmatization of carrier status: social implications of heterozygote genetic screening programs. 15 85

Pseudotibiotalar slant is a positioning artifact which duplicates a finding recently reported as a new observation in the ankles of patients with sickel cell anemia and the configuration of tibiotalar slant described in juvenile rheumatoid arthritis, hemophilia, and multiple epiphyseal dysplasia. The configuration was produced on radiographs of the author's ankle by flexion of the knee and external rotation. It is a nonspecific finding which should prompt inquiry into the possibility of ipsilateral knee and/or hip abnormality.
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PMID:Pseudotibiotalar slant: a positioning artifact. 84 Oct 46

One hundred ninety-three asymptomatic patients with hereditary coagulation disorders and human immunodeficiency virus (HIV) infection were studied in a controlled trial of zidovudine (ZDV) versus a placebo (with an average of 9.7 months on study). Pretreatment characteristics were well balanced between the placebo and drug-treated groups, including CD4 distributions, types of clotting disorders, transaminase abnormalities, and use of various hemostatic agents. At the time of analysis, 161 patients either were still receiving treatment or had previously reached an endpoint of disease progression while receiving treatment. Twenty-five patients withdrew voluntarily. The toxic effects noted included granulocytopenia and anemia, especially in older patients, and subjective symptoms of asthenia, malaise, and nausea, consistent with the known consequences of treatment with 300 mg ZDV five times daily. There was a trend toward more diagnoses of acquired immunodeficiency syndrome (AIDS), advanced or early AIDS-related complex (ARC), single ARC symptoms, or death in placebo recipients as compared with those receiving ZDV (22 v 13). Because older patients with hemophilia have more rapid disease progression, the same efficacy analysis was performed in the 89 patients aged more than 30 years who were receiving treatment. In this subgroup, there was a similar trend (11 v 6). With regard to the most advanced problems of the infection among the older patients, there were five patients who were newly diagnosed with AIDS or died in the placebo group versus none in the ZDV group (P = .02) among the older patients. The pretreatment distribution of CD4 counts for the placebo and ZDV groups were similar, but patients aged more than 30 years had significantly (P less than .049) fewer CD4 cells than patients aged less than 30 years. A beneficial ZDV effect is also supported by a trend toward higher CD4 counts (a 48-cell increase in the ZDV group at 24 weeks as compared with a four-cell increase in the placebo group) and a significant (P = .03) difference in weight gain in the ZDV patients aged more than 30 years (8 pounds) as compared with the older placebo patients (aged more than 30 years) (2 pounds) at week 24. The findings in the asymptomatic hemophilic patients aged more than 30 years support a useful effect of ZDV, which is similar to observations in the larger study of its use in asymptomatic, nonhemophilic patients.
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PMID:Placebo-controlled trial to evaluate zidovudine in treatment of human immunodeficiency virus infection in asymptomatic patients with hemophilia. NHF-ACTG 036 Study Group. 183 Oct 59

A case of acquired haemophilia A presenting with extensive spontaneous bruising and anaemia is reported. The anaemia was due to myelodysplastic syndrome (FAB: refractory anaemia with ringed sideroblasts). A factor-VII:C-specific inhibitor was also found. Prednisone and pyridoxine were given, and the inhibitor became undetectable after 4 weeks of therapy, but the abnormal ringed sideroblasts still persisted on repeated bone marrow biopsy.
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PMID:Myelodysplastic syndrome and acquired factor VIII inhibitor with severe subcutaneous haemorrhage. 190 70

Anaemia is a frequent complication in patients with human immunodeficiency virus type 1 (HIV-1) infection. We tested 14 children with severe haemophilia (9 HIV-1 antibody seropositive CDC stage IIA, 5 seronegative) for haemoglobin and urinary neopterin concentrations and found a negative correlation between neopterin and haemoglobin (rs = -0.745, p = 0.007; Spearman's rank correlation). This finding suggests that chronic immune activation, possibly along with the release of specific cytokines such as interferon gamma and tumor necrosis factor alpha may be involved in the pathogenesis of anaemia.
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PMID:Low haemoglobin in haemophilia children is associated with chronic immune activation. 202 56

Hemophiliacs often have mild anemia, and hemolysis has been suggested as the likely mechanism on the basis of the reduced serum haptoglobin values frequently observed in these patients. It has been suggested that hypohaptoglobinemia results from isohemagglutinins or other contaminating proteins in the infused factor concentrates. The advent and increased utilization of Factor VIII concentrates that are highly purified by use of monoclonal antibodies have provided the opportunity to study whether proteins other than Factor VIII contained in the concentrate induce hemolysis. Of 49 consecutively studied Factor VIII-deficient hemophiliacs, 19 (39%) had a reduced serum haptoglobin level (less than 27 mg/dl). In particular, 16 of 35 (46%) of patients receiving only monoclonally purified Factor VIII products (Monoclate or Hemofil-M) had a reduced serum haptoglobin value. Haptoglobin measurements were variable on repeat measurement in 8 patients. Haptoglobin levels did not correlate with type or severity of hemophilia, hemoglobin value, or alterations in liver function. Low serum haptoglobin values were also observed in children with leukemia, without apparent hemolysis, who had extensive cutaneous hemorrhage associated with thrombocytopenia. We propose that reduced serum haptoglobin values in hemophiliacs do not result from immune-mediated hemolysis due to contaminating proteins in the concentrate. Moreover, hypohaptoglobinemia may not be due to hemolysis at all but may instead result from dissolution of hematomas and other foci of internal hemorrhage.
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PMID:Reduced serum haptoglobin values in hemophiliacs receiving monoclonally purified factor VIII concentrates. 210 38

On 36,536 abdominal operations, in 36 patients (0.1%) there was necessary to perform a relaparotomy due to intraabdominal hemorrhage, of whom in 28 patients this complication arised after emergency surgical interventions, while in 8 cases after elective surgery. The cause of bleeding in 26 patients were technical mistakes during the first intervention, in two the overdosage of anticoagulants, in other two a fibrinolysis, and in one patient haemophilia. In 5 patients the origin of the hemorrhage could not be verified at relaparotomy. Clinical picture of an intraabdominal bleeding depended on its acuity and extent; in 18 patients the massive bleeding manifested suddenly or by progressive development of heart failure. In 7 patients slow evolution of the blood loss manifested with anemia and intestinal paresis. Hemoperitoneum arised in 6 patients, but without anemia, and in the other five remaining patients, a circuscripted intraabdominal hematoma was formed. In 8 patients laparocentesis was diagnostically successful. (The re-laparotomy was lifesaving for 26 patients). 12 patients died. The authors believe that well knowning of parameters of central hemodynamics, together with prolonged paresis of the gut, hyperthermia and hyperleucocytosis it is possible to recognize the predominant signs of acute postoperative hemorrhage.
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PMID:[Relaparotomy for intra-abdominal hemorrhage]. 224 13

With a view to the characterisation of presenting symptoms, a survey was made of 140 boys diagnosed as having haemophilia A or B, severe or moderate form, in Sweden during the years 1960-1987. Mean age at diagnosis was nine months for the severe cases and 22 months for the moderate cases. Although the heredity was known in 59/140 cases, 35 had had bleeding episodes before diagnosis had been established, thus emphasising the importance of genetic information and carrier identification in haemophilia families. Of the presenting symptoms, subcutaneous bleedings constituted 41% while joint and muscle bleedings were uncommon; 16% were bleedings in conjunction with puncture of vessels, injections or surgery. Fourteen percent had anaemia and received blood-transfusion at diagnosis; 9% were diagnosed post-neonatally but 20% had shown abnormal bleeding tendency already in the neonatal period; seven boys (5%) had intracranial haemorrhages, five of them neonatally. A thorough family history and an extensive investigation of bleedings in the neonatal period should make early diagnosis possible.
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PMID:Diagnostic symptoms of severe and moderate haemophilia A and B. A survey of 140 cases. 232 82

Eight hundred and fifty two cases, who were introduced from the Dental Hospital to Department of Internal medicine, Medical Hospital at Niigata, The Nippon Dental University, were examined for medical complications. About one hundred and fifty cases were introduced per year from the Dental Hospital, which consisted of about 15% of the total outpatients in the Department of Internal medicine. The age distribution showed a high incidence of patients in their 50's. The number of patients over 60 years old was 220 (25.8%), and the number of patients over 65 years old was 160 (18.8%). There was then a high percentage of elder patients. The reason for the initial medical examinations was the need for a pre-operative medical examination in 42.6% of the total cases. Concerning medical complications among the patients, the highest incidence was hypertension in 116 cases (13.6%); the second highest was hepato-biliary and pancreatic diseases in 114 cases (13.4%); and heart diseases in 81 cases (9.5%). Eighteen cases of HBs antigen positive (2.1%) were seen among the patients with liver diseases. Among those with blood diseases, anemia showed the highest incidence, and a small number had leukemia and hemophilia. Diabetes mellitus showed up in 39 cases (4.6%), most of them being more than 40 years of age. Mentally and physically handicapped patients accounted for 30 cases. Half of them were from the pre-operative examination area, like tooth extraction.
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PMID:[Clinico-statistical study of medical complication in dental patients]. 253 46

Mild leukopenia and thrombocytopenia are common in multitransfused hemophiliacs. Because little attention has previously been directed to measurements of erythropoiesis in these patients, we prospectively examined hemoglobin concentration and RBC indices in 94 children and young adults with hemophilia during comprehensive clinic visits. Additional studies performed in many included serum transferrin saturation, ferritin, haptoglobin, and free erythrocyte protoporphyrin measurements. Hemoglobin concentrations were recorded as age-related percentile values. Hemophiliacs of all ages and degrees of severity often had lower than average values for hemoglobin; 31% had values less than the third percentile, 46% less than the tenth percentile, and 83% less than the mean value. Reduced hemoglobin percentile values were unrelated to age, severity of disease, or human immunodeficiency virus antibody status. Only five patients had an obvious cause for anemia. Serum ferritin, transferrin saturation, and erythrocyte protoporphyrin values were usually normal, indicating that iron deficiency and anemia of chronic disease were uncommon. Although serum haptoglobin was reduced in 44% of the patients, reticulocyte count was infrequently increased. We conclude that hemoglobin values are frequently less than the mean normal values for age in hemophiliacs. Although frank anemia is common, it is usually mild and without obvious cause. Hemophiliac individuals with slightly reduced hemoglobin values probably do not routinely require detailed investigation for occult blood loss, iron deficiency, or inflammation.
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PMID:Reduced hemoglobin values in children and young adults with hemophilia. 336 83


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