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

Table 1 Baseline characteristics of the patient

Laboratory parameters	Results	Normal range
White blood cells (109/L)	3.92	3.5-9.5
Neutrophils	42.4	40-75
Lymphocytes	49.5	20-50
Red blood cells (1012/L)	4.3	4.3-5.8
Hemoglobin (g/L)	129	130-175
Platelets (109/L)	67	125-350
Steamed buns meal test
Fasting glucose (mmol/L)	8.45	3.61-6.11
0.5 h glucose (mmol/L)	9.11
1 h glucose (mmol/L)	7.48
2 h glucose (mmol/L)	7.14
C-p (fasting) (μg/L)	0.59	1.1-4.4
C-p (0.5 h) (μg/L)	0.63
C-p (1 h) (μg/L)	0.5
C-p (2 h) (μg/L)	0.37
HbA1c	9.9
GAD, IAA, ICA	Negative	Negative
Free T4 (ng/L)	7.9	9.3-17
Free T3 (ng/L)	2.37	2.0-4.4
Total T4 (μg/L)	46.6	51-141
Total T3 (μg/L)	0.795	0.8-2.0
Thyroid-stimulating hormone (mIU/L)	2.29	0.27-4.2
Testosterone (nmol/L)	0.87	6.07-27.10
FSH (IU/L)	0.58	1.27-19.26
LH (IU/L)	1.02	1.24-8.62
The GnRH stimulating test
FSH (-15 min) (IU/L)	0.59
FSH (0 h) (IU/L)	0.63
FSH (0.5 h) (IU/L)	0.72
FSH (1 h) (IU/L)	0.63
FSH (1.5 h) (IU/L)	0.68
FSH (2 h) (IU/L)	0.67
LH (-15 min) (IU/L)	1.07
LH (0 h) (IU/L)	1.09
LH (0.5 h) (IU/L)	1.79
LH (1 h) (IU/L)	2.07
LH (1.5 h) (IU/L)	1.98
LH (2 h) (IU/L)	1.91
Prolactin (mIU/L)	148.12	55.968-278.356
Estradiol (pmol/L)	< 73	< 73-252.49
Iron (μmol/L)	41.4	11-30
Transferrin saturation value	95.4	20-55
Ferritin (μg/L)	4329	23.9-336.2
Alanine aminotransferase (U/L)	75	0-40
Aspartate aminotransferase (U/L)	56	0-42
Total bilirubin (μmol/L)	13.24	5.00-21.00
Direct bilirubin (μmol/L)	3.57	0.00-7.00
Total protein (g/L)	62	60-80
Albumin (g/L)	40	35-55
Gamma-glutamyl transferase (U/L)	32	0-52
Alkaline phosphatase (U/L)	131	40-150
Prothrombin activity	83	80-120
Hepatitis B surface antigens (IU/ml)	0.0	< 0.05
Anti-HCV (S/CO)	0.06	< 1
Cortisol (μg/L) (8 am)	220.8	62-194
Adrenocorticotropic hormone (ng/L) (8 am)	38.27	7.2-63.3
Urinary free cortisol (μg/24 h)	93.06	36-137

GAD: Glutamate decarboxylase antibody; IAA: Insulin antibody; ICA: Islet cell antibody; FSH: Follicle-stimulating hormone; LH: Luteinizing hormone; HCV: Hepatitis C virus.

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.