Hepcidin levels in hereditary hyperferritinemia: Insights into the iron-sensing mechanism in hepatocytes

Table 1 Relation between serum ferritin concentrations and cataracts

Family member	Serum ferritin (μg/L)	Transferrin saturation (%)	Cataract
A I 1	1542	18	Yes
A I 2	1581	17	Yes
A II 1	2049	22	Yes
A II 4	988	17	Yes
A II 5	1855	26	Yes
A III 1	902	37	Yes
A II 2	37	21	No
A II 3	49	NA	No
A III 2	15	16	No
A III 3	19	NA	No
B I 1	NA	NA	Yes
B I 2	NA	NA	No
B II 1	2143	9	Yes
B II 2	NA	NA	Yes
B II 3	1128	37	Yes

NA: Not available.

Table 2 Demographic and biochemical results for healthy controls and hereditary hyperferritinemia cataract syndrome patients (mean ± SD)

	Healthy controls	HHCS cohort	Reference values
No. (M:F)	25 (11:14)	6 (1:5)
Age (range), yr	36 (21-62)	44.65 (21-75)
Hb (g/dL)	13.8 ± 1.3	12.8 ± 2.3	13-17
MCV (fL)	87.8 ± 5.8	90.4 ± 3.6	80-100
Iron (μmol/L)	16.4 ± 4.0	15.6 ± 6.7	10.6-28.3
Ferritin (μg/L)	110 ± 128	1716.3 ± 376	30-400
Prohepcidin (ng/mL)	236.88 ± 83.68	187 ± 120.9	NA
Hepcidin (ng/mL)	15.68 ± 15.7	19.1 ± 18.6	NA
TIBC (μmol/L)	59.2 ± 9.6	70.67 ± 19.9	41-77
Tsat %	28.8 ± 9.6	21.5 ± 9.5	NA
Vitamin B12 (pg/mL)	280.4 ± 153	324.2 ± 127.2	180-914
Serum folate (ng/mL)	8.2 ± 4.0	5.5 ± 1.9	3.1-17.5
Bilirubin (μmol/L)	10.44 ± 5.5	5.3 ± 3	0-20
ALP (IU/L)	73.3 ± 26.6	77.5 ± 11	40-129
ALT (IU/L)	30.3 ± 22.4	17.7 ± 6.9	10-50
Albumin (g/L)	46.2 ± 2.4	42.7 ± 4.2	34-50

Reference range as followed by Department of Biochemistry, Ealing Hospital NHS Trust, University of London, United Kingdom. HHCS: Hereditary hyperferritinemia cataract syndrome; Hb: Hemoglobin; MCV: Mean corpuscular volume; TIBC: Total iron binding capacity; Tsat %: Transferrin saturation; ALP: Alkaline phosphatase; ALT: Alanine transaminase; NA: Not available.