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Background: The gene that causes most cases of hereditary hemochromatosis is designated HFE. Three mutations exist at this locus at a relatively high gene frequency.Objective: To determine the gene frequency of the three HFE mutations and to relate genotypes to various clinical and laboratory variables.Design: Observational study.Setting: Health appraisal clinic.Patients: 10,198 adults who registered for health appraisal and consented to DNA examination for hemochromatosis. Consenting patients were slightly older and had attained a slightly higher educational level than nonconsenting patients.Measurements: Extensive medical history and laboratory tests, including complete blood count, transferrin saturation, and other chemistries; serum ferritin levels; and HFE genotype.Results: In white participants, the gene frequencies were 0.063 for the C282Y mutation, 0.152 for the H63D mutation, and 0.016 for the S65C mutation. Gene frequencies were lower in other ethnic groups. In participants with HFE mutations, the average serum transferrin saturation and ferritin levels were slightly increased, as were mean hemoglobin levels and mean corpuscular volume. A transferrin saturation of 50% had a sensitivity of only 0.52 (95% CI, 0.345 to 0.686) and a specificity of 0.908 (CI, 0.902 to 0.914) for detection of homozygosity. A ferritin level of 200 microg/L in women and 250 microg/L in men had a sensitivity of 0.70 (CI, 0.540 to 0.854) and a specificity of 0.803 (CI, 0.796 to 0.811). The prevalence of iron deficiency anemia was lower in women who carried HFE mutations.Conclusions: Screening for transferrin saturation and ferritin levels does not detect all homozygotes for the major hemochromatosis mutation. Heterozygotes for HFE mutations had a lower prevalence of iron deficiency anemia. [ABSTRACT FROM AUTHOR]

Presents an overview of Gaucher's disease and informs that milder forms of the disease are found frequently, especially in the Jewish population. Autosomal recessive disorder; Cause; Population genetics; Clinical manifestations; Diagnosis; Prognosis; Genetic counseling; Treatment; Enzyme replacement; More.

Discusses enzyme glucose-6-phosphate dehydrogenase (G6PD) deficiency. Clinical importance of G6PD deficiency; Genetics and molecular biology of G6PD; Diagnosis; Screening, prevention, and treatment.

Objective: To evaluate the role of genetic testing in screening for hereditary hemochromatosis to help guide clinicians, policymakers, and researchers.Participants: An expert panel was convened on March 3, 1997, by the Centers for Disease Control and Prevention (CDC) and the National Human Genome Research Institute (NHGRI), with expertise in epidemiology, genetics, hepatology, iron overload disorders, molecular biology, public health, and the ethical, legal, and social implications surrounding the discovery and use of genetic information.Evidence: The group reviewed evidence regarding the clinical presentation, natural history, and genetics of hemochromatosis, including current data on the candidate gene for hemochromatosis (HFE) and on the ethical and health policy implications of genetic testing for this disorder.Consensus Process: Consensus was achieved by group discussion confirmed by a voice vote. A draft of the consensus statement was prepared by a writing committee and subsequently reviewed and revised by all members of the expert group over a 1-year period.Conclusions: Genetic testing is not recommended at this time in population-based screening for hereditary hemochromatosis, due to uncertainties about prevalence and penetrance of HFE mutations and the optimal care of asymptomatic people carrying HFE mutations. In addition, use of a genetic screening test raises concerns regarding possible stigmatization and discrimination. Tests for HFE mutations may play a role in confirming the diagnosis of hereditary hemochromatosis in persons with elevated serum iron measures, but even this use is limited by uncertainty about genotype-phenotype correlations. To address these questions, the expert group accorded high priority to population-based research to define the prevalence of HFE mutations, age and sex-related penetrance of different HFE genotypes, interactions between HFE genotypes and environmental modifiers, and psychosocial outcomes of genetic screening for hemochromatosis. [ABSTRACT FROM AUTHOR]

The article presents a case study on a twenty-four year old white male patient who had been institutionalized for eleven years due to unexplained mental retardation.

The article presents a study on screening for galactosemia among mentally retarded patients in a hospital. Galactosemia is an inborn error of metabolism characterized by marked deficiency of the enzyme P-gal-uridyl transferase. Screening for galactosemia in mental hospitals, when carried out at all, generally consists of testing the urine for reducing substances. One purpose of this study was to determine whether such patients exist in a large mental hospital. In the screening test no hornozygotes for galactosemia were found. Four patients were found to have P-gal-uridyl transferase activity in the same range as found in heterozygotes for galactosemia.