Screening for Hemochromatosis and Iron Deficiency in Employees and Primary Care Patients in Western Germany

Niederau, Claus; Niederau, Christoph; Lange, Stefan; Littauer, Andrea; Abdel-Jalil, Nabil; Maurer, Michael; Häussinger, Dieter; Strohmeyer, G

doi:10.7326/0003-4819-128-5-199803010-00001

Cited by 90 publications

(34 citation statements)

References 27 publications

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“…Si el estudio se realiza sobre varones con edad superior a 30 años, como hicimos nosotros, al ser éste el grupo con mayor probabilidad de expresión clínica, dicha prevalencia debería aumentar (19,10). Nosotros utilizando este test detectamos una prevalencia de 2.6 por mil habitantes lo que confirma en nuestro medio lo ya detectado en otros países (10), aunque con una tasa discretamente inferior a los detectados por otros autores (7,8,21), posiblemente en relación a lo reducido de nuestra muestra. De todas formas, no se pudo estudiar a cinco pacientes en los que es posible que hubiese algún otro caso.…”

Section: Discussionunclassified

“…Precisamente para obviar lo engorroso de la biopsia hepá-tica, se han propuesto sangrías periódicas (8,19) para los pacientes que rehusan la biopsia. Se acepta como umbral para diagnosticar una hemocromatosis 20 sangrías, que provocan una deplección de 4-5 gramos de hierro sin que condicionen anemia, lo que permitiría distinguir esta enfermedad de otras que cursan con saturación de transferrina elevada, pero sin los depósitos tan importantes observados en la hemocromatosis (34).…”

Section: Discussionunclassified

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Prevalencia de hemocromatosis en trabajadores sanos: Importancia de añadir en la analítica de perfil bioquímico una saturación de transferrina

Martínez-Vázquez

Cadilla

Gil³

et al. 2000

An. Med. Interna (Madrid)

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La hemocromatosis es una enfermedad hereditaria caracterizada por una excesiva absorción intestinal de hierro (1,2), que conlleva un progresivo acúmulo dañino del mismo en diversos órganos que se expresa clínicamente con diversas complicaciones, algunas fatales como cirrosis hepática, miocardiopatía y diabetes mellitus (3). Estas manifestaciones, si [0212-7199(2000) 17: 12; pp 628-631] ANALES DE MEDICINA INTERNA

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Section: Discussionunclassified

Prevalencia de hemocromatosis en trabajadores sanos: Importancia de añadir en la analítica de perfil bioquímico una saturación de transferrina

Martínez-Vázquez

Cadilla

Gil³

et al. 2000

An. Med. Interna (Madrid)

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“…Family studies based on HLA linkage report an equal frequency of affected brothers and sisters, as expected for an autosomal recessive disorder, but the proportion of females among probands diagnosed on the basis of clinical symptoms is 11-35 percent lower than in males (33,34,39). Furthermore, in a large screening trial, the prevalence of iron overload, as determined by liver biopsy or phlebotomy, was twice as frequent in males as females (47). This sex difference has been attributed to the lower degree of iron overload in women because of menstruation, pregnancy, and lactation.…”

Section: Interactionsmentioning

confidence: 95%

“…A smaller proportion, not yet well defined, is likely to develop potentially lifethreatening complications (21,(46)(47)(48).…”

Section: Population Frequenciesmentioning

confidence: 99%

Re: "Interaction Between Tobacco and Alcohol Consumption and the Risk of Cancers of the Upper Aero-Digestive Tract in Brazil"

Waddell¹,

Levy²,

Schlecht³

et al. 2000

American Journal of Epidemiology

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Hereditary hemochromatosis (HHC) is an autosomal recessive disorder of iron metabolism characterized by increased iron absorption and deposition in the liver, pancreas, heart, joints, and pituitary gland. Without treatment, death may occur from cirrhosis, primary liver cancer, diabetes, or cardiomyopathy. In 1996, HFE, the gene for HHC, was mapped on the short arm of chromosome 6 (6p21.3). Two of the 37 allelic variants of HFE described to date (C282Y and H63D) are significantly correlated with HHC. Homozygosity for the C282Y mutation was found in 52-100% of previous studies on clinically diagnosed probands. In this review, 5% of HHC probands were found to be compound heterozygotes (C282Y/H63D), and 1.5% were homozygous for the H63D mutation; 3.6% were C282Y heterozygotes, and 5.2% were H63D heterozygotes. In 7% of cases, C282Y and H63D mutations were not present. In the general population, the frequency of the C282Y/C282Y genotype is 0.4%. C282Y heterozygosity ranges from 9.2% in Europeans to nil in Asian, Indian subcontinent, African/Middle Eastern, and Australasian populations. The H63D carrier frequency is 22% in European populations. Accurate data on the penetrance of the different HFE genotypes are not available. Extrapolating from limited clinical observations in screening studies, an estimated 40-70% of persons with the C282Y homozygous genotype will develop clinical evidence of iron overload. A smaller proportion will die from complications of iron overload. To date, population screening for HHC is not recommended because of uncertainties about optimal screening strategies, optimal care for susceptible persons, laboratory standardization, and the potential for stigmatization or discrimination. Am J Epidemiol 2001;154:193-206.

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“…Among patients with clinical symptoms, however, the proportion of females is much lower, ranging from 11 to 35 % in three large reported series of studies (Fargion et al 1992;Niederau et al 1996;Adams et al 1997b). In a screening trial the prevalence of Fe overload ascertained by liver biopsy or phlebotomy was twice as frequent in males as females (Niederau et al 1998). This gender difference has been attributed to Fe loss from menstruation, pregnancy and lactation, but could also be influenced by gender differences in Fe intake.…”

Section: Hereditary Haemochromatosismentioning

confidence: 99%

Iron deficiency and iron overload: effects of diet and genes

2001

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Like most essential nutrients, Fe needs to be maintained in the body at a defined level for optimal health, with appropriate adaptation to varying Fe needs and supply. The primary mechanism for controlling Fe level is the regulation of Fe absorption. Several different proteins have been identified as contributors to the process. Despite a complex regulatory system, Fe disorders (both Fe deficiency and Fe overload) occur. Fe deficiency is a common problem worldwide, resulting from inadequate dietary Fe and blood loss. Complications include pre-term labour, developmental delay, and impaired work efficiency. No specific genetic syndromes causing isolated Fe deficiency have been described, but animal studies and clinical observations suggest that such a relationship may be a possibility. Conversely, the known causes of Fe overload are genetic. Fe overload is less common than Fe deficiency, but can result in serious medical complications, including cirrhosis, primary liver cancer, diabetes, cardiomyopathy and arthritis. The most common and best characterized syndrome of Fe overload is hereditary haemochromatosis (HHC), an autosomal recessive disorder. Mutations in the HFE protein cause HHC, but the clinical presentation is variable. Of particular interest is the factor that some HFE genotypes appear to be associated with protection from Fe deficiency. Other genetic variants in the regulatory pathway may influence the likelihood of Fe deficiency and Fe overload. Studies of genetic variants in HFE and other regulatory proteins provide important tools for studying the biological processes in Fe regulation. This work is likely to lead to new insights into Fe disorders and potentially to new therapeutic approaches. It will not be complete, however, until coordinated study of both genetic and nutritional factors is undertaken.

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Screening for Hemochromatosis and Iron Deficiency in Employees and Primary Care Patients in Western Germany

Abstract: Iron deficiency was more common in women, and iron overload was more common in men. Among male employees, iron overload was almost as common as iron deficiency.

Cited by 90 publications

References 27 publications

Prevalencia de hemocromatosis en trabajadores sanos: Importancia de añadir en la analítica de perfil bioquímico una saturación de transferrina

Prevalencia de hemocromatosis en trabajadores sanos: Importancia de añadir en la analítica de perfil bioquímico una saturación de transferrina

Re: "Interaction Between Tobacco and Alcohol Consumption and the Risk of Cancers of the Upper Aero-Digestive Tract in Brazil"

Iron deficiency and iron overload: effects of diet and genes

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