المؤلفون: Cadet, E., Capron, D., Perez, A. S., Crépin, S. N., Arlot, S., Ducroix, J.-P., Dautréaux, M., Fardellone, P., Leflon, P., Merryweather-Clarke, A. T., Livesey, K. J., Pointon, J. J., Rose, P., Harcourt, J., Emery, J., Sueur, J. M., Feyt, R., Robson, K. J. H., Rochette, J., Crépin, S N

المصدر: Journal of Internal Medicine; Feb2003, Vol. 253 Issue 2, p217-224, 8p

مصطلحات موضوعية: HEMOCHROMATOSIS, INBORN errors of metabolism, PIGMENTATION disorders, HEMOCHROMATOSIS diagnosis, COMPARATIVE studies, FERRITIN, HISTOCOMPATIBILITY antigens, RESEARCH methodology, MEDICAL cooperation, MEMBRANE proteins, GENETIC mutation, RESEARCH, TRANSFERRIN, EVALUATION research, CASE-control method, GENETIC carriers, GENOTYPES

مستخلص: Objective: To determine the optimal means of identifying patients with undiagnosed haemochromatosis.Design: Case-control study where cases are defined by the presence of specific clinical diagnoses or symptoms.Setting: Primary care patients were recruited from three Oxfordshire practices and secondary care patients were recruited from those patients attending specialist clinics in Amiens University Hospital.Subjects: A total of 569 patients recruited via hospital clinics and 60 primary care patients (recruited from 4022 consultations) presenting with the following haemochromatosis associated conditions, diabetes, arthralgia/chronic fatigue, osteoporosis or arthropathy were studied. The control group, a total of 991 healthy volunteers, were recruited through a Health Appraisal Centre. Patients and controls were included in the study if they or their family members had not previously been diagnosed with hereditary haemochromatosis.Main Outcome Measures: Serum ferritin concentration, transferrin saturation (Tsat) and presence of HFE mutations, C282Y and H63D. The check-up in controls consisted of a questionnaire, clinical examination, biochemical tests and screening for the presence of the C282Y and H63D mutations.Results: Patient groups presenting with unstable diabetes or chronic fatigue and arthralgia together with a raised serum ferritin concentration showed an enrichment in the haemochromatosis-associated genotype HH/YY, odds ratio (OR) = 40.1, confidence interval (CI) = 8.0-202.1 and OR = 103, CI = 22.9-469.7, respectively.Conclusion: Patients presenting to hospital clinics with haemochromatosis associated conditions should be screened biochemically for iron overload. Only those with a serum ferritin >300 microg L-1 or Tsat >40% should subsequently go on to be genotyped for HFE mutations. The patients at greatest risk of having undiagnosed haemochromatosis are those presenting with unstable diabetes, or fatigue and/or arthralgia in the absence of any other explanation. [ABSTRACT FROM AUTHOR]

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المؤلفون: Mainous III, Arch G., Gill, James M., Pearson, William S.

المصدر: Archives of Internal Medicine; 8/12/2002, Vol. 162 Issue 15, p1769, 6p

مصطلحات موضوعية: HEMOCHROMATOSIS diagnosis, TRANSFERRIN, MORTALITY

مصطلحات جغرافية: UNITED States

مستخلص: Background: Population-based hemochromatosis screening has been suggested with the rationale that identification and treatment of subclinical disease would decrease morbidity and mortality due to hemochromatosis. Objective: To examine the prevalence of elevated serum transferrin saturation levels and the burden of illness of hemochromatosis in terms of ambulatory visits, hospitalizations, and death in the United States. Participants and Methods: Four nationally representative data sets were used for the analysis of the prevalence of hemochromatosis as well as ambulatory care, hospitalizations, and deaths related to hemochromatosis. Participants included men and nonpregnant women aged 18 years and older in the Third National Health and Nutrition Examination Survey (1988-1994) and the 1996, 1997, and 1998 National Ambulatory Care Survey, National Hospital Discharge Survey, and Underlying Cause-of-Death Mortality Files. The data sets were based on single measurements of serum transferrin saturation levels, serum ferritin levels, and healthcare provider-recorded diagnoses according to the International Classification of Diseases, Ninth Revision, Clinical Modification, code for hemochromatosis. Results: The prevalence of elevated serum transferrin saturation levels ranged from 1% to 6%. When an elevated serum transferrin saturation level of 55% is combined with an elevated serum ferritin level, the prevalence decreases from 1.9% to 0.65%. The proportion of diagnosed hemochromatosis utilization out of total ambulatory visits, hospitalizations, and deaths is stable across the measures and the 3 years of data ranging from 0.01% to 0.03%. When white men were examined separately, the relationships remained the same as those among the general population of adults. Conclusions: Although a substantial proportion of adults whose condition is not currently diagnosed would be identified in a population-based screening program for subclinical hemochromatosis, diagnosed... [ABSTRACT FROM AUTHOR]

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المؤلفون: Murtagh, Luke J., Whiley, Michael, Wilson, Susan, Tran, Huy, Bassett, Mark L.

المصدر: American Journal of Gastroenterology (Springer Nature); Aug2002, Vol. 97 Issue 8, p2093, 7p

مصطلحات موضوعية: HEMOCHROMATOSIS diagnosis, TRANSFERRIN, GENETIC mutation

مستخلص: OBJECTIVE:Unsaturated iron binding capacity (UIBC) has been proposed as an inexpensive alternative to transferrin saturation for detection of hereditary hemochromatosis. The aim of this study was to compare, in a hospital referral clinic, the reliability of transferrin saturation and UIBC for detection of subjects who have inherited HFE (HLA-asociated iron overload) genotypes predisposing to iron overload.METHODS:Serum transferrin saturation, UIBC, and ferritin were tested in 110 consecutive subjects. Optimum thresholds were determined from receiver operating characteristic curves.RESULTS:Of 110 subjects, 44 carried significant HFE mutations (C282Y/C282Y or C282Y/H63D). In genetically predisposed subjects with biochemical expression, the optimum threshold for transferrin saturation was 43%, giving a sensitivity of 0.88 and specificity 0.95. For UIBC, the optimum threshold was 143 μg/dL (25.6 μmol/L), giving a sensitivity of 0.91 and specificity of 0.95. In patients referred with a family history or clinical suspicion of hemochromatosis, transferrin saturation and UIBC were highly reliable predictors of genotype. In patients referred for investigation of abnormal liver enzymes without a known family history of hemochromatosis, a normal transferrin saturation or normal UIBC was highly reliable in excluding hemochromatosis.CONCLUSIONS:Transferrin saturation and UIBC have equal reliability in ability to predict hemochromatosis. UIBC should be considered as an alternative to transferrin saturation in detection of hemochromatosis. [Copyright &y& Elsevier]

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المؤلفون: Ryan, E., Byrnes, V., Coughlan, B., Flanagan, A.-M., Barrett, S., O'Keane, J.C., Crowe, J.

المصدر: Gut; Jul2002, Vol. 51 Issue 1, p108, 5p, 6 Charts

مصطلحات موضوعية: HEMOCHROMATOSIS diagnosis, GENETIC disorders

مستخلص: Background: The majority of hereditary haemochromatosis (HH) patients are homozygous for the C282Y mutation in the HFE gene. We have demonstrated o homozygote frequency of 1 in 83 for the C282Y mutation in a retrospective analysis of Irish neonates. However, a fully developed phenotype is not observed at the same frequency clinically, suggesting that a large proportion of Irish HH patients may remain undiagnosed. Aims: To determine whether underdiagnosis of HH results from the non-specific nature of early symptoms or incomplete penetrance of the C282Y mutation. Methods: Seventy nine C282Y homozygous individuals identified from family screening for HH and 30 HH probands were investigated. Non-specific symptoms (fatigue, arthropathy, and impotence) and their association with iron indices (transferrin saturation and serum ferritin) and hepatic iron deposition were analysed. Resulls: We found that 78% of men (mean age 42 years) and 36% of women (mean age 39 years) who were identified as C282Y homozygotes following family screening had iron overload, as defined by a transferrin saturation ≥52% combined with a serum ferritin ≥300 µg/l for men and ≥200 µg/l for women. The frequency of reports of non-specific symptoms in those individuals with iron overload was not significantly different from those who did not have iron overload. Conclusions: Our findings indicate that underdiagnosis of HH may be due to the non-specific nature of early symptoms and less frequently to the incomplete penetrance of the C282Y mutation. [ABSTRACT FROM AUTHOR]

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المؤلفون: Åsberg, A., Hveem, K., Thorstensen, K., Ellekjaer, E., Kannelønning, K., Fjøsne, U., Halvorsen, T. B., Smethurst, H.-B. G., Sagen, E., Bjerve, K. S.

المصدر: Scandinavian Journal of Gastroenterology; Oct2001, Vol. 36 Issue 10, p1108-1115, 8p, 8 Charts, 2 Graphs

مصطلحات موضوعية: MEDICAL screening, HEMOCHROMATOSIS diagnosis

مصطلحات جغرافية: NORWAY

مستخلص: Background: Hereditary hemochromatosis (HH) is a common genetic disease leading to accumulation of iron in several organs, most notably the liver. The C282Y/C282Y mutation in the HFE gene is found in most cases. In order to prevent clinical disease and to study the cost and feasibility of screening, a large population was screened. Methods: In a Norwegian county, all inhabitants 20 years or older were invited to participate in a population-based health survey programme. Screening for HH was one of several subprojects. Blood samples were obtained from 65,238 persons. Subjects with high serum transferrin saturation in two tests and high serum ferritin were clinically evaluated for HH. All subjects with high serum transferrin saturation in two tests were offered genotyping. Results: HH was newly diagnosed in 92 women and 177 men. Phlebotomy treatment was performed in 64 women and 152 men. Severe organ damage (liver cirrhosis) was ascertained in only 4 men. We found no correlation between serum ferritin and age. The estimated cost was US$ 1.6 per subject screened and US$ 390 per newly discovered HH subject. The estimated prevalence of phenotypical HH not previously known was 0.34% in women and 0.68% in men. The prevalence of the C282Y/C282Y mutation was at least 0.68%. Conclusion: Large-scale screening for HH can be performed at a relatively low cost if combined with a health survey programme. The yield in terms of newly discovered cases is considerable, but few cases were found seriously ill. Better knowledge of the natural course of HH is necessary if we are to be able to estimate the cost-effectiveness of large-scale screening. [ABSTRACT FROM AUTHOR]

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المؤلفون: Schechter, Geraldine P., Dave, Harish P.G., Alving, Barbara M., Schechter, G P, Dave, H P, Alving, B M

المصدر: Annals of Internal Medicine; 01/02/2001, Vol. 134 Issue 1, p38-46, 9p, 1 Diagram, 1 Chart

مصطلحات موضوعية: HEMATOLOGY, WARFARIN, HEPARIN, ANTICOAGULANTS, HEMOCHROMATOSIS diagnosis, THROMBOSIS prevention, HEMATOLOGIC malignancies, BLOOD diseases, RED blood cell transfusion, HEMOCHROMATOSIS, THROMBOCYTOPENIA, THROMBOTIC thrombocytopenic purpura, THERAPEUTICS

مصطلحات جغرافية: UNITED States

مستخلص: Features summaries of articles concerning anticoagulation, transfusion therapy, hemachromatosis in the United States. Influence of genes in warfarin dose requirements; Heparin induced thrombocytopenia; Administration of anticoagulation therapy in patients after a first episode of idiopathic venous thromboembolism; Sources of information.

المؤلفون: Seamark, Clare J

المصدر: BMJ: British Medical Journal (International Edition); 05/13/2000, Vol. 320 Issue 7245, p1314, 4p, 1 Graph

مصطلحات موضوعية: HEMOCHROMATOSIS diagnosis, HUMAN chromosome abnormality diagnosis

مستخلص: Discusses issues associated with the diagnosis and treatment of hereditary haemochromatosis. Description of a general practitioner's experience in the treatment of asymptomatic haemochromatosis; Patient's view on the treatment process; Genetic screening for the disease; Trial evidence on the effects of treatments.

المؤلفون: El-Serag, Hashem B., Inadomi, John M., El-Serag, H B, Inadomi, J M, Kowdley, K V

المصدر: Annals of Internal Medicine; 02/15/2000, Vol. 132 Issue 4, p261-269, 9p, 20 Diagrams, 2 Charts, 3 Graphs

مصطلحات موضوعية: HEMOCHROMATOSIS diagnosis, HUMAN chromosome abnormality diagnosis

مستخلص: Background: Screening for hereditary hemochromatosis is traditionally done by using serum iron studies. However, mutation analysis of the hemochromatosis-associated HFE gene has recently become available.Objective: To compare the cost-effectiveness of no screening with four screening strategies that incorporate HFE gene testing or serum iron studies.Design: Cost-effectiveness analysis.Data Sources: Published literature.Target Population: Siblings and children of an affected proband.Time Horizon: Lifetime from 10 years of age (children) or 45 years of age (siblings).Perspective: Societal.Intervention: 1) Serum iron studies. 2) Gene testing of the proband. If the proband is homozygous (C82Y+/+), the spouse undergoes gene testing; if he or she is heterozygous (C82Y+/-), the children undergo gene testing. 3) Gene testing of the proband; if he or she is homozygous, relatives undergo gene testing. 4) Direct gene testing of relatives.Outcome Measures: Cost per life-year saved and incremental cost-effectiveness ratio.Results Of Base-case Analysis: In children, HFE gene testing of the proband was the most cost-effective strategy for screening one child (incremental cost-effectiveness ratio, $508 per life-year saved). HFE gene testing of the proband followed by testing of the spouse was the most cost-effective strategy for screening two or more children (incremental cost-effectiveness ratio, $3665 per life-year saved). In siblings, all screening strategies were dominant compared with no screening. Strategies using HFE gene testing were less costly than serum iron studies.Results Of Sensitivity Analysis: Despite varying the prevalence of mutations and regardless of the cost of the genetic test in one- and two-way sensitivity analyses, HFE gene testing remained cost-effective.Conclusions: HFE gene testing for the C282Y mutation is a cost-effective method of screening relatives of patients with hereditary hemochromatosis. [ABSTRACT FROM AUTHOR]

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المؤلفون: Gopaluni, S., Martinez-Balzano, C., Graziano, S.

المصدر: QJM: An International Journal of Medicine; Dec2014, Vol. 107 Issue 12, p1023-1025, 3p

مصطلحات موضوعية: GASTRIC bypass, OVERWEIGHT persons, HEMOCHROMATOSIS diagnosis, BLOOD testing, GENETIC testing, HOMOZYGOSITY

المؤلفون: Islam, S, Singer, M, Kulhanjian, J A

المصدر: Journal of Perinatology; Oct2014, Vol. 34 Issue 10, p792-794, 3p

مصطلحات موضوعية: HEMOCHROMATOSIS diagnosis, INBORN errors of metabolism diagnosis, BLOOD testing, CONSANGUINITY, DEATH, DIFFERENTIAL diagnosis, PREMATURE infants, MAGNETIC resonance imaging, MICROBIAL sensitivity tests, PHYSICAL diagnosis, TOXIC epidermal necrolysis, ULTRASONIC imaging, URINALYSIS, SOCIAL services case management, FLUCONAZOLE, CHILDREN

مستخلص: Toxic epidermal necrolysis (TEN) is a rare, life-threatening mucocutaneous condition, which may occur as an adverse reaction to a number of medications. The anitifungal agent, fluconazole, has been associated with TEN in limited reports, mainly in adults with HIV infection. We describe the case of a neonate with liver disease who developed TEN, presumably induced by fluconazole. [ABSTRACT FROM AUTHOR]

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