HFE-Related Hemochromatosis: The Haptoglobin 2-2 Type Has a Significant but Limited Influence on Phenotypic Expression of the Predominant p.C282Y Homozygous Genotype
Table 1
(a) Sociodemographic and biochemical characteristics of the 351 p.C282Y homozygous patients according to Hp genotype.
Characteristic
Hp genotype
Hp1-1
Hp2-1
Hp2-2
value
Sociodemographic
Number of patients
46
179
126
Gender (Males, Females)
32 M, 14 F
99 M, 80 F
64 M, 62 F
Age at diagnosis (years)
46.5 ± 10.8
47.4 ± 13.8
46.4 ± 13.8
0.7887
Biochemical
Transferrin saturation (%)
76.8 ± 15.1
78.7 ± 14.3
80.0 ± 12.9
0.4009
Serum ferritin (g/L)
604 [310–1136]
570 [280–1024]
631 [329–1196]
0.3580
Iron removed (g)1
3.6 [1.8–6.1]
3.3 [1.8–5.6]
3.9 [2.0.–6.8]
0.3030
(b) Sociodemographic and biochemical characteristics of the studied 351 p.C282Y homozygous patients according to gender.
Characteristic
Gender
Males
Females
P value
Sociodemographic
Number of patients
195
156
Age at diagnosis (years)
46.5 ± 12.5
47.5 ± 14.5
0.4854
Biochemical
Transferrin saturation (%)
82.0 ± 13.1
75.0 ± 14.0
< 0.0001
Serum ferritin (g/L)
892 [553–1732]
320 [179–562]
< 0.0001
Iron removed (g)1
4.9 [3.4–8.2]
3.2 [2.0–5.8]
< 0.0001
(c) Sociodemographic and biochemical characteristics of the studied 351 p.C282Y homozygous patients according to alcohol consumption.
Characteristic
Alcohol consumption
≥ 60 g/day
< 60 g/day
P value
Sociodemographic
Number of patients
27
324
Gender (Males, Females)
25 M, 2 F
170 M, 154 F
Age at diagnosis (years)
48.9 ± 12.5
46.7 ± 13.5
0.4185
Biochemical
Transferrin saturation (%)
88.3 ± 8.0
78.1 ± 14.0
0.0002
Serum ferritin (g/L)
1256 [658–2315]
562 [283–967]
< 0.0001
Iron removed (g)1
6.8 [4.8–9.7]
3.4 [1.8–5.9]
< 0.0001
(178 males and 147 females). Age at diagnosis and transferrin saturation are expressed as mean ± standard deviation. Serum ferritin concentrations and iron removed by phlebotomy are presented as median and interquartile range.
