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PubMed2004

Association between hemochromatosis genotype and lead exposure among elderly men: the normative aging study.

Because body iron burden is inversely associated with lead absorption, genes associated with hemochromatosis may modify body lead burden. Our objective was to determine whether the C282Y and/or H63D hemochromatosis gene (HFE) is associated with body lead burden. Patella and tibia lead levels were measured by K X-ray fluorescence in subjects from the Normative Aging Study. DNA samples were genotyped for C282Y and H63D using polymerase chain reaction/restriction fragment length polymorphism (PCR/RFLP). A series of multivariate linear regression models were constructed with bone or blood lead as dependent variables; age, smoking, and education as independent variables; and C282Y or H63D as independent risk factors and/or effect modifiers. Of 730 subjects, 94 (13%) carried the C282Y variant and 183 (25%) carried the H63D variant. In the crude analysis, mean tibia, patella, and blood lead levels were consistently lower in carriers of either HFE variant compared with levels in subjects with wild-type genotypes. In multivariate analyses that adjusted for age, smoking, and education, having an HFE variant allele was an independent predictor of significantly lower patella lead levels (p < 0.05). These data suggest that HFE variants have altered kinetics of lead accumulation after exposure. Among elderly men, subjects with HFE variants had lower patella lead levels. These effects may be mediated by alterations in lead toxicokinetics via iron metabolic pathways regulated by the HFE gene product and body iron stores.

Aged↗
PubMed2001

Hemochromatosis gene variants in three different ethnic populations: effects of admixture for screening programs.

Genetic testing for hemochromatosis may have important implications for diagnosis and screening of the disease. However, the relative importance of mutations in the gene for hereditary hemochromatosis, HFE, may vary among populations, when the mutant allele frequencies and their penetrance in a particular genetic and environmental background are taken into account. We present data on the allele and genotype frequencies and population structure of two HFE genetic variants in three different ethnic groups from a highly mixed urban population (São Paulo, Brazil). Allele frequencies for both the C282Y and H63D HFE mutations showed significant differences among the studied populations (for the C282Y mutation, Euro-Brazilian 3.7%, admixed 0.7%, Afro-Brazilian 0.5%; and for the H63D mutation, Euro-Brazilian 20.3%, admixed 13.0%, Afro-Brazilian 6.4). The data substantiate a European origin for these mutations. Furthermore, they provide a basis for a more rational strategic planning of population screening programs for the disease.

Analysis of Variance↗
PubMed2003

Hemochromatosis secondary to repeated blood transfusions in a dog.

Hemochromatosis was presumptively diagnosed using cytologic examination of liver tissue from an aged male Miniature Schnauzer. The dog was presented after receiving whole blood transfusion every 6-8 weeks for 3 years to treat pure red cell aplasia. The cytologic specimen contained clusters of hepatocytes with abundant intracytoplasmic gold-yellow pigment granules and clumps of extracellular, green-black, globular pigment, both interpreted to be hemosiderin. Histologic sections of liver revealed hepatocellular degeneration with bridging portal fibrosis, lobular atrophy, biliary hyperplasia, and diffuse, severe hemosiderin accumulation. Serum iron and ferritin levels, and dry-weight iron concentrations of liver, heart, and kidneys were markedly increased. Hemosiderin accumulation was confirmed in hepatocytes of cytologic and histologic specimens using Perl's Prussian blue staining. This report is the first description of transfusional hemochromatosis in a dog and is the first to describe its cytologic appearance in a veterinary patient.

Animals↗
PubMed1987

Fatal acute congestive heart failure in a patient with idiopathic hemochromatosis and cocaine use.

Cardiovascular complications from cocaine use have been recognized in increasing frequency in recent years. We report the case of a young man with a history of intranasal cocaine use presenting with acute congestive heart failure who, on postmortem examination, was found to have idiopathic hemochromatosis. It is speculated that cocaine played a synergistic role in depressing myocardial function in a heart which had already been compromised by the diffuse iron deposition associated with hemochromatosis.

Adult↗
PubMed1994

[Isolated gonadotropin deficiency and secretory discrepancy of cortisol and adrenal androgen by hemochromatosis secondary to congenital dyserythropoietic anemia].

A 37-yr-old woman was admitted to our hospital for evaluation of diabetes mellitus, liver cirrhosis and primary amenorrhea. Serological and hematological examinations revealed that she suffered from hemochromatosis secondary to congenital dyserythropoietic anemia (CDA), characterized by ineffective hematopoiesis and erythropoietic dysplasia. Iron deposition was suggested by MRI on the pancreas, liver and pituitary gland. Endocrinological examinations demonstrated that she had isolated gonadotropin deficiency and ovarian failure, resulting in hypogonadotropic hypogonadism. In addition, despite normal responses of serum cortisol and plasma aldosterone to ACTH and furosemide-standing tests, respectively, serum dehydroepiandrosterone (DHEA) responded poorly to ACTH test, suggesting selective damage of zona reticularis in adrenocortical steroidogenesis in association with hemochromatosis.

Adrenal Cortex↗
PubMedDate not supplied

Turner's syndrome and hypogonadotrophic hypogonadism: thalassemia major and hemochromatosis.

We report here the first case of an association between thalassemia major, hemochromatosis, hypogonadotrophic hypogonadism and Turner's syndrome. The patient is an Albanese girl born in 1980; thalassemia major was diagnosed at 1 year and she was started on a transfusion program; in 1987 iron chelation therapy was started. Six years ago, at 7 years of age, her short stature was observed and she was referred to the endocrinology clinic for evaluation; the basal and stimulation tests done at that time failed to reveal growth hormone deficiency, hypothyroidism or any other disease. Nevertheless, at 12 years old, she was still prepubertal and there was a bone age delay of 1.5 years; a gonadotropin-releasing hormone (GnRH) stimulation test showed no response of either FSH (basal: 0.2 mU/ml; peak: 0.8 mU/ml) or LH (basal: < 0.1 mU/ml; peak: 0.6 mU/ml), suggesting hypogonadotrophic hypogonadism. Small dysmorphies called our attention to the possibility of Turner's syndrome which was confirmed by the karyotype (45 XO/46 XX). In this patient, thalassemia major and its lifelong consequences, namely the hemochromatosis-related hypogonadotrophic hypogonadism, masked the usual hormonal findings of Turner's syndrome.

Adolescent↗
PubMed1999

Familial perinatal hemochromatosis: a disease that causes recurrent non-immune hydrops.

Perinatal hemochromatosis is a rare disorder with an enormous iron overload in the parenchymal organs, especially the liver, pancreas, heart and endocrine glands. Elements of the reticuloendothelial system are relatively spared. The clinical course is rapidly progressive and the disease is invariably fatal. Several siblings are described in the literature. Herein, we describe one pair of full siblings affected by the disease, wherein the clinical presentation was hydrops. We suggest that hemochromatosis should be considered in the differential diagnosis of hydrops fetalis.

Adult↗
PubMed2002

Molecular testing for hereditary hemochromatosis.

Recent molecular genetic testing methods for hereditary hemochromatosis (HH) and single nucleotide polymorphisms are summarized. Comparisons of various sample preparation and detection instrumentation are made in terms of automation, cost, high-throughput and feasibility of implementation in a clinical laboratory. Examples are given for the analysis of the two mutations associated with hereditary hemochromatosis (HH) by high-performance liquid chromatography, capillary electrophoresis and mass spectrometry based on single nucleotide extension. The trends for developing better genetic testing are discussed.

Genetic Testing↗
PubMed1997

[Neuroimage findings in hepatocerebral degeneration induced by hemochromatosis].

Transitory changes are shown through T1-weighted MRI bipallidal hyperintensity in a patient with acquired hepatocerebral degeneration induced by hemochromatosis. In addition we discuss about the possibility of this image associated with thalamic hyperintensity on T2-weighted also seen in this case, was just secondary to hepatocerebral degeneration, or if they could be caused by hemochromatosis itself.

Hemochromatosis↗
PubMed1992

A case of congenital dyserythropoietic anemia type II associated with hemochromatosis.

A 54-year-old woman with anemia, diabetes mellitus and liver dysfunction was admitted to our hospital. Numerous binucleated erythroblasts in the bone marrow, a positive serum acidified test, and the presence of anti I and anti i antigens on the surface of her erythrocytes indicated that she had congenital dyserythropoietic anemia (CDA) Type II. Hemochromatosis was confirmed by a liver biopsy. This case is a sibling of a patient with CDA Type II reported by Omine et al in 1981 (Acta Haematol Jpn 44:1). They report that no physical or hematological abnormalities were found when she was examined at the age of 29 years. Twenty-five years later, she developed CDA Type II and hemochromatosis. This case indicates that long-term observation of the family members of a patient with CDA Type II is necessary.

Anemia, Dyserythropoietic, Congenital↗
PubMed2005

Hemochromatosis with mutation of the ferroportin 1 (IREG1) gene.

The HFE, H ferritin, TFR2, and ferroportin 1 genes of a Japanese patient diagnosed as having hemochromatosis were amplified by PCR and sequenced. A novel mutation in the ferroportin 1 was found in the patient. It was located in the noncoding region of the ferroportin 1; nucleotide 117 adenine was changed to guanine, 7 nucleotides downstream the iron responsive element (IRE) region. This mutation was not found in the patient's son or daughter, or in 50 healthy individuals. It was suggested that the mutation in the ferroportin 1 may be related to hemochromatosis of this patient.

Adult↗
PubMed1975

Joint changes in idiopathic hemochromatosis.

Two patients with idiopathic hemochromatosis and a distinctive arthropathy are presented. The joint findings are characterized by joint narrowing, prominent osteophytes, subcondral sclerosis and multiple lucent subchondral cysts, and chondrocalcinosis. The etiology of this arthropathy and its relationship to chondrocalcinosis are discussed. Occasionally, patients may present with this arthropathy before the onset of the classical signs of idiopathic hemochromatosis.

Bone Cysts↗
PubMed1980

High incidence of extrahepatic carcinomas in idiopathic hemochromatosis.

In a series of 36 consecutive patients with proved idiopathic hemochromatosis and with a mean follow-up time of 8 years, 10 patients developed 11 carcinomas (30.6%). Five patients had hepatomas and six patients extrahepatic carcinoma involving lungs (four), oral cavity (one), and thyroid (one). The findings suggest a causal relationship between hemochromatosis and extrahepatic cancer. The evidence of an increased cancer risk in relation to cirrhosis and to iron toxicity are discussed.

Adult↗
PubMed1991

Neonatal hemochromatosis--report of an autopsy case.

A case of neonatal hemochromatosis in a 3-hour-old male is described. He presented with hypotonia, mild jaundice, and respiratory difficulty immediately after birth. He had no evidence of congenital infection, immune-related hemolysis or exogenous iron uptake. Postmortem examination revealed abnormal facial features. The organs were of normal weight for his age except a small liver and lungs, and a large spleen. The most prominent changes were in the liver and pancreas. The liver was coarsely nodular and fibrotic. The lobular architecture was totally distorted by innumerable multinucleated giant cells, loss or collapse of the hepatocytes, and diffuse fibrosis. A large amount of hemosiderin was seen in the liver, pancreatic acini and thyroid follicular cells. Scanty amount of hemosiderin was also found in the myocardial fibers and renal tubular cells. The pancreas showed hyperplasia and hypertrophy of the islets. The spleen showed severe congestion and a moderate extramedullary hemopoiesis but no deposits of hemosiderin. This patient had three siblings died in neonatal period, one of which had clinical features of neonatal hemochromatosis.

Face↗
PubMed1997

Hereditary hemochromatosis. Preventing chronic effects of this underdiagnosed disorder.

Hereditary hemochromatosis, once thought to be rare, is the most common genetic disorder in the United States. Nonetheless, the condition often goes undetected and untreated until its severe effects have become apparent. What clues can lead you to the diagnosis, and how can you spot them in your patients, before significant morbidity has occurred? In this article, Drs McDonnell and Witte discuss the diagnosis and management of this underrecognized problem as well as the various issues involved in screening. An illustrative case of hemochromatosis is also included.

Hemochromatosis↗
PubMed2002

Hereditary hemochromatosis: a common, often unrecognized, genetic disease.

Hereditary hemochromatosis in people of northern European descent is more common than many physicians realize. It causes excessive gastrointestinal absorption of iron, leading to potentially fatal iron deposition in multiple organs. Early diagnosis and phlebotomy to reduce iron stores can prevent complications and provide normal life expectancy. Genetic testing of relatives of patients with hemochromatosis is warranted in some circumstances.

Algorithms↗
PubMed1998

Public health surveillance for hereditary hemochromatosis.

The recent realization that hemochromatosis is a common condition has created opportunities to develop unified public health surveillance for this disorder and its complications and to design programs to prevent unnecessary illness and death resulting from this disorder. Public health surveillance for hemochromatosis can be used to measure the magnitude of the problem (for example, to establish the number of persons with evidence of early iron overload); identify research needs; reveal the natural history of the disease; detect changes in health care practices, such as use of screening tests; and evaluate interventions, such as phlebotomy. Existing surveillance has been limited to periodic measurement of morbidity and mortality done by using hospital discharge records, health examination surveys, vital statistics, and data from small research registries. The improvement of surveillance will entail the ongoing collection of information from population-based surveys, such as the Behavioral Risk Factor Surveillance System; the collection of data on provider practices (for example, through the National Ambulatory Medical Care Survey); and the establishment of population-based registries. Creating population-based registries requires consensus on case definitions; strategies to encourage case ascertainment and reporting; policies and procedures for protecting privacy and ensuring confidentiality; and partnerships among providers, researchers, and public health officials. Longitudinal data from population-based registries will provide insight into determinants of disease expression, such as pattern or degree of iron overload. This information is critical for developing evidence-based recommendations for population screening, monitoring changes in medical practices, and assessing the effect of preventive measures.

Confidentiality↗
PubMed1998

Research priorities in hereditary hemochromatosis.

The Working Group on Research Priorities used a formal nominal group technique to identify and prioritize the specific aims of applied research needed to provide the scientific basis for population screening for iron overload disorders. The most important applied research goal was characterization of the natural history of the relation between genotype and phenotype in hereditary hemochromatosis and other iron overload disorders. Three other important research objectives were development of an optimal approach to screening for iron overload; analyses of the cost-effectiveness of screening; and assessment of the ethical, legal, and social implications of screening. To achieve these specific aims, two research studies were recommended as being of the highest priority: a multicenter, cross-sectional, population-based study of the natural history of iron overload and a multicenter, case-control study of patients with disease manifestations potentially attributable to hereditary hemochromatosis in primary care and subspecialty clinics.

Cost-Benefit Analysis↗