The Spectra of Disease-Causing Mutations in the Ferroportin 1 (SLC40A1) Encoding Gene and Related Iron Overload Phenotypes (Hemochromatosis Type 4 and Ferroportin Disease)

Table 2

Clinical and biological data of the 145 index cases.

Index cases
	FD ()	HC4 ()	UH ()	FD vs. HC4 ()	FD vs. UH ()	HC4 vs. UH ()
Age (years)				0.217	0.053	0.467
Median (min–max)	45 (9-77)	48 (24-72)	53 (25-74)
Gender ()				0.112	0.144	1
Female	39	6	5
Male	56	21	17
Ferritin (μg/L)				0.811	<0.0001	0.0085
Median (min–max)	2258 (255-12405)	2195 (353-15000)	1008 (585-3600)
Transferrin saturation (%)				<0.0001	0.193	<0.0001
Median (min–max)	33 (7-93)	91 (16-100)	39.4 (23.7-100)
HIC (μmol/g)				0.748	0.786	0.695
Median (min–max)	215 (20-2920)	265.35 (85-925)	170 (106-693)
Hb (g/dL)				0.383	0.608	0.799
Median (min–max)	14.1 (10.9-17)	14.9 (7.5-16.5)	14.5 (9.5-16.1)
MCV (fL)				0.007	0.628	0.028
Median (min–max)	91 (70-97)	96.9 (87-108)	90.5 (78.3-101)
ASAT (UI/L)				0.003	0.201	0.476
Median (min–max)	27 (13-50)	47 (1-322.1)	40 (15-145)
ALAT (UI/L)				0.002	0.545	0.087
Median (min–max)	31 (11-114)	83 (14-538.8)	48 (14-84)
GGT (UI/L)				0.145	0.067	0.655
Median (min–max)	22.5 (10-61)	23 (6-345)	42.5 (16.6-582)
Tissue iron deposition ()
Hepatocyte	0	6	1
Macrophage	20	0	0
Mixed	23	10

FD = ferroportin disease; HC4 = hemochromatosis type 4; UH = unexplained hyperferritinemia.