James C Barton

..Comparisons of MCV, MCH, and transferrin saturation testing and other implications of MCV and MCH testing for hemochromatosis in medical care are discussed...

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..The natriuretic effect of elevated plasma dopamine levels could explain chronic hyponatremia...

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..Screening using an elevated TfSat criterion would fail to detect some C282Y homozygotes aged 25-29 years...

..V. vulnificus wound infection occurs in some persons with hemochromatosis, but the risk of infection may be small. All patients with V. vulnificus infections should be evaluated for hemochromatosis, iron overload, and liver disorders...

..By December 2004, data from a phase III trial for iron overload had been released, and filing is expected in the US and EU in the first half of 2005...

..Thus, we estimated the frequency of the HJV missense mutations I222N and G320V in adult whites and African Americans from Alabama general population convenience samples...

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..Iron absorption is decreased in some individuals who have undergone bariatric surgery...

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..We evaluated thyroid-stimulating hormone (TSH) and free thyroxine (T4) in white participants of the primary care-based Hemochromatosis and Iron Overload Screening (HEIRS) Study...

..The occurrence of anemia and iron overload may be discordant in women heterozygous for ALAS2 mutations...

..Previous H/IO reports in some participants could be explained by treatment that induced iron depletion before initial screening, misdiagnosis, or participant misunderstanding of their physician or the initial screening questionnaire...

..Vibrio vulnificus infection in persons with B-chronic lymphocytic leukemia (B-CLL) or hypogammaglobulinemia has been reported infrequently...

..Research needed to advance knowledge about treatment of iron overload is proposed...

..Therapeutic phlebotomy is feasible and effective, and would prevent complications of iron overload...

..A phase I/II trial that began in September 2003 has reportedly completed recruitment...

..Although OR estimates of iron overload in African-Americans and Native Africans with Q248H were greater than unity, the increased OR were not statistically significant...

..Twenty-eight percent of 80 Alabama white hemochromatosis probands with HFE C282Y homozygosity previously reported having Native American ancestry, but the possible effect of this ancestry on hemochromatosis phenotypes was unknown...

..0001). We conclude that the screening TfSat and SF phenotypes of Native Americans are similar to those of whites. The allele frequencies of HFE C282Y and H63D are significantly lower in Native Americans than in whites...

..A phase I/II clinical trial that began in September 2003 has reportedly completed recruitment...

..Possible explanations for differences in TfSat and SF in whites and blacks and pertinence to the detection of hemochromatosis, iron overload, and other disorders with similar phenotypes are discussed...

..del277 mutation was linked to the HLA haplotype A*02, B*44 and therefore not on the same chromosome as the C282Y mutation. Thus, the present patient's only intact HFE protein is C282Y, and this may explain his hemochromatosis phenotype...

..Little is known about differences in the prevalence of severe iron overload at death in whites and blacks. We evaluated data and samples from 16,152 autopsies (8484 whites, 7668 blacks) performed at a single university hospital...

..Possible explanations for the disparate red blood cell and iron phenotypes of the proband and his family members are discussed...

..The present cases do not have HFE genotypes typical of hemochromatosis diagnosed in adults. Hashimoto thyroiditis, linked to Ch6p in many kinships, did not segregate with JH alleles on Ch1q in the present kinship...

..abstract:..

..An effort was made to determine if volunteer blood donation before diagnosis decreases the severity of iron overload at diagnosis in persons with hemochromatosis...

..However, iron supplementation is unnecessary and not recommended for the mild, self-limited anemia and decreased serum iron and ferritin concentrations encountered after initial iron depletion therapy for hemochromatosis...

..Although related issues warrant further study, implementation of well-designed screening programs for hemochromatosis should not be delayed...

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..We conclude that uncommon HFE exon and intron mutations may be discovered among hemochromatosis patients who have "atypical" HFE genotypes...

..There has been no estimate of the potential eligibility of hemochromatosis probands or patients as blood donors or the suitability for transfusion of their blood that was removed by therapeutic phlebotomy...

..Human leukocyte antigen (HLA) haplotypes may influence iron phenotypes in patients with HFE hemochromatosis and could affect survival...

..We wanted to quantify HLA-A and -B phenotype and haplotype frequencies in Alabama index patients with common variable immunodeficiency (CVID) and selective IgG subclass deficiency (IgGSD), and in control subjects...

..We sought to compare frequencies of HFE C282Y and H63D alleles and associated odds ratios (OR) in 100 consecutive unrelated white adults with malignancy to those in 318 controls...

..We reviewed previous reports of 4 patients with hemochromatosis and sarcoid. We conclude that a combination of sarcoid, steatosis, and excessive hepatocyte iron caused cirrhosis or hepatic fibrosis in the proband and her son...

..0096) and a negative correlation with RDW (P = 0.0286). Among euthyroid white adults without iron deficiency, there are significant correlations of log(10) free T4 with Hb and RDW in controls, but not in HFE C282Y homozygotes...

..HFE C282Y, ferroportin 744 G-->T, and common forms of heritable anemia appear to account for increased iron absorption or retention in some patients...

..Genetic regions in linkage disequilibrium with HJV c.-6C>G and FTL L55L could partly explain high TS/SF phenotypes in whites. Am. J. Hematol., 2009. Published 2009 Wiley-Liss, Inc...

..Thalidomide and dexamethasone therapy similar to that administered for myeloma alone may be effective treatment for myeloma in patients with preexisting B-CLL and may also have anti-B-CLL activity...

..Persons with renal disease, especially those treated with long-term hemodialysis and intravenous iron infusions, may have an increased risk of infection with V. vulnificus...

..These observations could be explained by the increased frequencies of HLA-A*03-B*07 in C282Y homozygotes and in CVID and IgGSD, and by the common occurrence of putative CVID or IgGSD allele(s) on haplotypes bearing C282Y...

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..We cannot exclude a possible association of homozygosity for TNF promoter variants on TS and SF values...

..Background &..

..012). There were no significant differences in Q248H frequencies in men and women control participants. We conclude that the frequency of the FPN1 Q248H polymorphism is greater in AA men with elevated SF than in those with normal SF...

..It was concluded that mixture modeling of phenotypic data may provide a clinical guide for screening with gender-specific thresholds to identify potential samples for genetic testing...

..We investigated the risk of death from iron overload among treated hemochromatosis probands who were homozygous for HFE C282Y and had serum levels of ferritin greater than 1000 μg/L at diagnosis...

..We sought to evaluate the hypothesis that the high incidence of cutaneous melanoma in white persons in central Alabama is associated with a predominance of Irish and Scots descent...

..X-linked sideroblastic anemia (XLSA) is associated with iron overload and mutations in ALAS2, which encodes 5-aminolevulinate synthase. There are few reports of XLSA in persons of sub-Saharan African descent...

..The goal of this study was to compare hepatic histopathologic features and hepatic iron concentration (HIC) among patients with phenotypic hemochromatosis and different HFE genotypes...

..In the present hemochromatosis patients, few reported that HFE genotyping was accompanied by negative psychosocial outcomes...

..British Isles ancestry, not exclusively Irish and Scots ancestries, likely accounts for the relatively high C282Y frequency in White persons in central Alabama...

..The aim of this study was to evaluate patient compliance with phlebotomy therapy of hemochromatosis-associated iron overload...

..The pertinence of HFE mutations, anastrozole and tamoxifen treatment, and chemotherapy to the development and management of PCT in women with breast cancer is discussed...

..We conclude that detecting hemochromatosis in a workplace multiphasic health screening program is efficacious and economical...

..010) and >65 years (p=0.013), and families not homozygous for the APOE4 allele (p=0.041). We hypothesize that Hb F may be less toxic than adult Hb in its interaction with A beta and may protect against the development of AD...

..Correct answers were associated with academic practice, internal medicine specialty, and medical school graduation within 10 years. CONCLUSION: Many physicians have inadequate knowledge about hemochromatosis diagnosis and treatment...

..These findings indicate enhanced levels of both membrane-bound and soluble forms of FcμR in CLL patients...

..Participants are recruited from 5 Field Centers. Laboratory testing and data management and analysis are performed in a Central Laboratory and Coordinating Center, respectively...

..238T>C (C80R) and c.302T>C (L101P). In the second kinship, 2 previously identified mutations, G320V and I222N, were found. These studies confirm that mutations in HJV cause juvenile hemochromatosis...

..This variant is associated with increased ferritin levels in African-Americans and may play a role in their propensity to develop iron overload...

..Liver biopsy to screen for cirrhosis may be unnecessary in such patients, regardless of age or serum liver enzyme levels...

..Notable among these was a DNA triplet insert, predicting an insertion of glycine, found in two African-American subjects, one with and one without iron storage disease...

..Serum ferritin >900 microg/L in male C282Y homozygotes is predictive of moderately increased iron stores...

..This approach can identify populations in which hereditary or acquired factors influence metabolism measurement...

..To assess geographic differences in the frequencies of HFE C282Y and H63D genotypes in six racial/ethnic groups recruited in the Hemochromatosis and Iron Overload Screening (HEIRS) Study...

..The Hemochromatosis and Iron Overload Screening (HEIRS) Study screened 101,168 primary care participants for iron overload with serum transferrin saturation (TS), ferritin, and C282Y and H63D mutations of the HFE gene...

..S. individuals, although fewer Canadians may experience a negative response to such testing...

..2 g/dL higher in women with C282Y/C282Y than in controls. Greater mean MCV in C282Y homozygosity reflects increased mean TfSat and mean SF in men and women; an additional effect of genotype on MCV and Hb was detected in women...

..Thus, ALAS2 mutations might contribute to more severe iron loading in persons with primary hemochromatosis...

..The patient did not have coding region mutations in HAMP, FPN1, HJV or ALAS2. We conclude that this patient represents another example of hemochromatosis due to mutations of the gene encoding transferrin receptor 2...

..However, US residents in states with some legal protections against genetic discrimination had more, not less, concern than either Canadians or US residents in states with no legal protections...

..This study measured the extent of insurance and employment problems associated with population screening for hereditary hemochromatosis and iron overload...

..Iron overload and hemochromatosis are common, treatable conditions. HFE genotypes, levels of serum ferritin, transferrin saturation values, and self-reported medical history were studied in a multiethnic primary care population...

..Phlebotomy therapy improves hepatic fibrosis. Here, we summarise some new findings in haemochromatosis, a disorder first described in 1865...

..Indeed, the small difference found is in the opposite direction of that reported previously...

..To determine the molecular basis of a mild hemochromatosis phenotype in a man of Scottish-Irish descent...

..Unsaturated iron-binding capacity has similar performance at lower cost. However, the within-person biological variability of both these tests may limit their ability at commonly used cut points to detect HFE C282Y homozygous patients...