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Table 4 HLA-A*03 in present and previous hemochromatosis cohorts a

From: HLA-A*03, the hemochromatosis ancestral haplotype, and phenotypes of referred hemochromatosis probands with HFE p.C282Y homozygosity

Region (n)

A*03 positivity, %b

A*03 allele frequency c

Reference

Australia (129)d

39.5

0.2519

[13]

Alabama (43)d

58.1

0.3953

[14]

Italy (47)d

61.7

0.3936

[15]

Alabama (180)

78.3

0.4944

present study

Value of p

 < 0.0001

 < 0.0001

 
  1. a Abbreviation: HLA human leukocyte antigen
  2. b Positivity is defined as either A*03 homozygosity or heterozygosity. Positivity in the Australia cohort was lower than that in the previous Alabama (n = 43), Italy, and the present Alabama (n = 180) cohorts (p = 0.0098, 0.0015, and < 0.0001, respectively; post-hoc Fisher's exact tests). Positivity in the previous Alabama (n = 43) and Italy cohorts was lower than that in the present Alabama (n = 180) cohort (p = 0.0106 and 0.0239, respectively; post-hoc Fisher's exact tests)
  3. c Allele frequency is defined as the quotient of total A*03 alleles by total A alleles. A*03 allele frequency in the Australia cohort was lower than that in the previous Alabama (n = 43) and present Alabama (n = 180) cohorts (p = 0.0133 and < 0.0001, respectively; post-hoc Fisher's exact tests). A*03 allele frequency was lower in the Italy cohort than in the present Alabama cohort (p = 0.0147; post-hoc Fisher's exact test)
  4. d Patients in these cohorts were not characterized by HFE genotyping