Inheritance of two HFE mutations in African Americans: Cases with hemochromatosis phenotypes and estimates of hemochromatosis phenotype frequency

Genetics in Medicine

Volumn 3, Issue 4, 2001, Pages 294-300

  Barton, James C ^a   Acton, Ronald T ^a  

^a G 105 ^*  (United States)

Author keywords

African American; Hemochromatosis; HFE; Iron; Iron overload

Indexed keywords

FERRITIN; HFE PROTEIN; IRON; TRANSFERRIN;

ADULT; ANAMNESIS; ARTICLE; CASE REPORT; CONTROLLED STUDY; FAMILY STUDY; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; GENOTYPE; GEOGRAPHIC DISTRIBUTION; HAPLOTYPE; HEMOCHROMATOSIS; HLA TYPING; HUMAN; INHERITANCE; IRON BLOOD LEVEL; MALE; NEGRO; PHENOTYPE; POPULATION RESEARCH; RACE DIFFERENCE; STATISTICAL ANALYSIS;

EID: 0035746537     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/00125817-200107000-00005     Document Type: Article

References (43)

1. Iron overload in African Americans
2. Histochemically demonstrable hepatic iron excess in African Americans
3. Primary iron overload in African Americans
4. Caucasian hemochromatosis mutation Cys282Tyr in African American iron overload
5. Iron overload in African Americans: Phenotypic and genotypic characterization of probands from central Alabama
6. Mutation analysis of the HFE gene associated with hereditary hemochromatosis in African Americans
7. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis
8. The effect of HFE genotypes on measurements of iron overload in patients attending a health appraisal clinic
9. Prevalence of hereditary hemochromatosis mutations in the upper savannah region of South Carolina
10. Practice guideline development task force of the College of American Pathologists. Hereditary hemochromatosis
11. Transferrin saturation phenotype and HFE genotype screening for hemochromatosis and primary iron overload: Predictions from a model based on national, ethnic, racial, and ethnic group composition in central Alabama
12. Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands
13. HFE mutations analysis in 711 hemochromatosis probands: Evidence for S65C implication in mild form of hemochromatosis
14. A novel mutation of HFE explains the classical phenotype of genetic hemochromatosis in a C282Y heterozygote
15. Two novel nonsense mutations of HFE gene in five unrelated Italian patients with hemochromatosis
16. Genetic and clinical description of hemochromatosis probands and heterozygotes: Evidence that multiple genes linked to the major histocompatibility complex are responsible for hemochromatosis
17. The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22
18. Transferrin receptor-2 (TFR2) mutation Y250X in Alabama Caucasian and African American subjects with and without primary iron overload
19. Estimation of HLA-A, -B, -DR haplotype frequencies in five racial groups represented in the NMDP donor file
20. Reference tables of two and three-locus haplotype frequencies for HLA-A, B, C, DR, BF, and GLO
21. Comparison of HLA phenotypes among African Americans from Alabama, Maryland, and North Carolina
22. Hemochromatosis: Association of severity of iron overload with genetic markers
23. HFE mutations in African-American women with non-insulin-dependent diabetes mellitus
24. Prevalence of the C282Y and H63D polymorphisms in a multi-ethnic control population
25. A study of the HLA-A system in the Spanish population
26. Estudio de los polimorfismos HLA, Bf y GLO en la población Española
27. HLA phenotype and haplotype frequencies in the Cantabria (Middle North Spain) population
28. Estudio genetico del sistema HLA en la población vasca
29. Twenty-four hour variation of transferrin saturation in treated and untreated haemochromatosis homozygotes
30. Iron overload in Africa: Interaction between a gene and dietary iron content
31. Iron overload in African Americans
32. Dietary iron overload persists in rural sub-Saharan Africa
33. Distribution of transferrin saturations in the African-American population
34. Clinical estimation of body iron stores
35. Correlation between genotype and phenotype in hereditary hemochromatosis: Analysis of 61 cases
36. Human leukocyte antigen (HLA) association and typing in hemochromatosis
37. HLA-H mutations in the Azkenazi Jewish population
38. Global prevalence of putative haemochromatosis mutations
39. Evidence from a Ghanian population of known African descent to support the proposition that hemochromatosis is a Caucasian disorder
40. HLA markers of the hemochromatosis gene in Sweden
41. A study of 609 haplotypes marking for the hemochromatosis gene: (1) mapping of the gene hear the HLA-A locus and characters required to define a heterozygous population and (2) hypothesis concerning the underlying cause of hemochromatosis-HLA association
42. Clinical and biochemical abnormalities in people heterozygous for hemochromatosis
43. Absence of the hemochromatosis gene Cys282Tyr mutation in three ethnic groups from Algeria (Mzab), Ethiopia, and Senegal