Table 1

Clinical characteristics of patients with primary iron overload

Number	Case number	Age	Sex	Iron Test		End-organ manifestations	Patterns of iron deposition on liver biopsy	Iron overload presented on MRI	Stage*	Known mutation or predicted deleterious variant in HH related gene†
Number	Case number	Age	Sex	Serum ferritin (ng/ml）	Transferrin saturation (%）	End-organ manifestations	Patterns of iron deposition on liver biopsy	Iron overload presented on MRI	Stage*
1	H1‡	67	M	1102	92.3	Liver fibrosis	Predominant in hepatocytes	Liver and Spleen	3	SUGP2 p.R639Q DENND3 p.L708V (homozygote)
2	H1-2 (sister)	77	F	365	31.1	Asymptomatic	ND	ND	2	SUGP2 p.R639Q
3	H13‡	26	M	7004	92.1	Lethargy, dyspnea, diabetes, cardiopathy	Predominant in hepatocytes	Liver	3	HJV p.Q6H/C321X/I281T
4	H13-1 (brother)	27	M	6269	95.4	Skin pigmentation, loss of libido, abnormal liver function test	Predominant in hepatocytes	Liver and pancreas	3	HJV p.Q6H/C321X/I281T
5	H22‡	18	M	6678	100.0	Abnormal liver function test	Predominant in hepatocytes	ND	3	HJV p.Q6H/C321X/H104R TFR2 p.A75V
6	H22-1 (father)	46	M	266	56.2	Asymptomatic	ND	ND	2	HJV p.H104R TFR2 p.A75V
7	H25‡	33	M	421	84.0	Abnormal liver function test	ND	Liver	3	HJV p.E3D TMPRSS6 p.T331M
8	H35‡	53	F	1402	49.0	Lethargy, jaundice, abnormal liver function test	Predominant in hepatocytes	Liver and spleen	3	HJV p.E3D BMP4 p.R269Q
9	H35-1 (son)	30	M	79.3	46.0	Asymptomatic	ND	ND	2	HJV p.E3D BMP4 p.R269Q
10	H40‡	57	M	4001	93.0	Abnormal liver function test	Predominant in hepatocytes	Liver	3	HJV p.Q6H/C321X/V274M
11	H2	46	M	1100	42.5	Asymptomatic	ND	Liver and Spleen	2	DENND3 p.L708V
12	H5	22	F	2995	89.1	Lethargy, skin pigmentation, amenorrhea, abnormal liver function test	Predominant in hepatocytes	Liver and pancreas	3	HJV p.Q312X (homozygous)
13	H9	58	M	5949	28.4	Lethargy, diabetes and abnormal liver function test	Predominant in hepatocytes	Liver and spleen	3	SLC40A1 p.V162del
14	H10	62	F	5346	99.0	Abnormal liver function test	Predominant in hepatocytes	Liver, spleen and pancreas	3	-
15	H11	48	F	7078	99.6	Diabetes, amenorrhea and abnormal liver function test	Predominant in hepatocytes	Liver and spleen	3	SLC40A1 IVS3+10delGTT
16	H19	50	F	9272	81.6	Cardiac failure, diabetes, abnormal liver function test	Predominant in hepatocytes	Liver, spleen and pancreas	3	-
17	H31	28	M	738	46.4	Jaundice, abnormal liver function test	Predominant in hepatocytes	ND	3	DENND3 p.L708V
18	H34	38	F	843	96.2	Skin pigmentation, liver cirrhosis, diabetes, amenorrhea	Predominant in hepatocytes	ND	3	SLC40A1 IVS1-8C/G DENND3 p.L708V
19	H41	53	M	1030	96.8	Cardiac failure, diabetes, liver fibrosis	Predominant in hepatocytes	Liver	3	-
20	H45	46	M	2000	85	Abnormal liver function test	ND	Liver, spleen	3	-
21	H46	36	F	2000	96	Abnormal liver function test, amenorrhea	Predominant in hepatocytes	Liver	3	HJV p.F103L (homozygous)
22	H49	49	M	7445	97	Abnormal liver function test	Predominant in hepatocytes	Liver, spleen	3	SLC40A1 p.Y333H

*According to 2011 hemochromatosis guidelines from the AASLD, stages are defined as follows: Stage one refers to those patients with the genetic disorder with no increase in iron stores; Stage two refers to those patients with the genetic disorder who have phenotypic evidence of iron overload but who are without tissue or organ damage; Stage three refers to those individuals who have the genetic disorder with iron overload and have iron deposition to the degree that tissue and organ damage occurs.
†Whole exome sequencing was conducted for cases with HJV E3D (Cases H1, H25, and H35).
‡Cases with family genetic analysis.
HH, hereditary haemochromatosis; ND, not done.