Identification of novel non-HFE mutations in Chinese patients with hereditary hemochromatosis

Table 1 Clinical Characteristics of discovery cohort with primary iron overload

	Age	Sex	SF (ng/ml)	TS (%)	AST (U/L) (15–40)	ALT (U/L) (9–50)	T-Bil (umol/L)	D-Bil (umol/L)	γ-GGT (U/L) (8–55)	Iron overload on MRI	Iron overload on liver biopsy	End-organ manifestations
D1	62	F	5346	99	49	54	9	2	45	Liver, spleen and pancreas	Predominant in hepatocytes	Abnormal liver function test
D2	28	M	737	46	35	40	192	159	30	ND	Predominant in hepatocytes	Jaundice
D3	38	F	843	96	53	30	40	14		Liver and spleen	Predominant in hepatocytes	Skin pigmentation, liver cirrhosis, diabetes, amenorrhea
D4	31	M	2013	98	96	69	96	31	73	Liver, spleen and pancreas	ND	Liver cirrhosis
D5	46	M	2000	85	109	215	32	15	291	Liver, spleen	ND	Abnormal liver function test
D6	45	M	685	ND	21	16	72	10	18	Liver	Predominant in hepatocytes	Abnormal liver function test
D7	29	M	418	93	28	20	51	17	17	ND	Predominant in hepatocytes	Skin pigmentation, liver cirrhosis
D8	31	M	2000	93	154	452	–	–	99	ND	Predominant in Kupffer cells	Abnormal liver function test
D9	74	M	436	71	30	20	34	8	100	Liver	ND	Liver cirrhosis, atrial fibrillation

ALT, alanine aminotransferase; AST, aspartate aminotransferase; ND: Not done; SF, serum ferritin; T-Bil, total bilirubin; D-Bil, direct bilirubin; TS, transferrin saturation; γ‐GGT, gamma glutamyl transpeptidase; MRI, magnetic resonance imaging

ISSN: 1750-1172