Novel compound heterozygous mutations in the hemojuvelin gene in a juvenile hemochromatosis patient: A case report

Table 2 Clinical characteristics and mutations in the Chinese probands with hemojuvelin mutations

Serial number	Publication date	Mutations	Gender	Age	Clinical manifestation	Treatment	Prognosis	Ref.
1	2018	HJV p.E3D, HFE p.H63D, TFR2 p.I238M, SUGP2 p.R639Q, DENND3 p.L708V	Male	67	Hepatic fibrosis	NA	NA	[4]
2	2018	HJV p.F103L (homozygous)	Female	36	Abnormal liver function test, amenorrhea	NA	NA	[4]
3	2018	HJV p.C321X/Q6H/I281T	Male	26	Diabetes, cardiopathy	NA	NA	[4]
4	2018	HJV p.Q6H/C321X/V274M	Male	57	Abnormal liver function test	phlebotomy	NA	[4]
5	2018	HJV p.Q6H/C321X/H104R, TFR2 p.A75V	Male	18	Abnormal liver function test	NA	NA	[4]
6	2018	HJV p.E3D, BMP4 p.R269Q	Female	53	Jaundice, abnormal liver function test	NA	NA	[4]
7	2018	HJV p.E3D, HFE p.H63D, TMPRSS6 p.T331M	Male	33	Abnormal liver function test	NA	NA	[4]
8	2004	HJV p.C321X/Q6H/I281T	Female	19	Hepatic fibrosis, diabetes, dilated cardiomyopathy, hypogonadotropic hypogonadism skin pigmentation	Phlebotomy	Normal cardiac function, and normal serum ferritin after 2 years of follow-up	[5]
9	2014	HJV p.C321X/Q6H (heterozygous)	Male	37	Liver cirrhosis diabetes, dilated cardiomyopathy, hypogonadism skin pigmentation	Phlebotomy	Died of sudden cardiac arrhythmia 1 mo later	[6]
10	2014	HJVp.C321X/Q6H (homozygous)	Male	29	Liver fibrosis, diabetes, dilated cardiomyopathy, hypogonadism skin pigmentation	NA	NA	[7]
11	2017	HJV p.Y46x (homozygous)	Male	13	Liver cirrhosis	NA	NA	[8]
12	2017	HJV p.I287S (homozygous)	Male	37	Diabetes	NA	NA	[8]

NA: Not available; HJV: Hemojuvelin.