Table 1 Clinical and laboratory... | American Society of Hematology

Table 1

Clinical and laboratory parameters of 3 generations of family members carrying C326S ferroportin mutation

Patient	IA	IIA	IIB	IIC	IIIA	IIIB	IIIC
Age at diagnosis/sex	35/M	16/F	16/M	16/M	8/F	10/F	10/F
Transferrin sat, initial		97%*	86%*	94%*	89%*	84%*	97%*
Transferrin sat, current	79%*	89%*	70%*	89%*	93%*	91%*	51%*
S-ferritin current, ng/mL	69	99	81	394*	114	21	11†
S-hepcidin, ng/mL	278*	198	297*	459*	453*	396*	13†
U-hepcidin, ng/mg creat	1308	2743*	2270*	3183*	3463*	3036*	72
Liver biopsy	Cirrhosis	↑ hepatocyte iron	↑ hepatocyte iron
Clinical	Arthritis, hip replacement	mild arthritis	mild arthritis	mild LFT changes

Patient	IA	IIA	IIB	IIC	IIIA	IIIB	IIIC
Age at diagnosis/sex	35/M	16/F	16/M	16/M	8/F	10/F	10/F
Transferrin sat, initial		97%*	86%*	94%*	89%*	84%*	97%*
Transferrin sat, current	79%*	89%*	70%*	89%*	93%*	91%*	51%*
S-ferritin current, ng/mL	69	99	81	394*	114	21	11†
S-hepcidin, ng/mL	278*	198	297*	459*	453*	396*	13†
U-hepcidin, ng/mg creat	1308	2743*	2270*	3183*	3463*	3036*	72
Liver biopsy	Cirrhosis	↑ hepatocyte iron	↑ hepatocyte iron
Clinical	Arthritis, hip replacement	mild arthritis	mild arthritis	mild LFT changes

Normal serum hepcidin median (5%-95% range) was 112 ng/mL (29-254 ng/mL) for men, and 65 ng/mL (17-286 ng/mL) for women. Normal urine hepcidin median (full range) was 502 ng/mg creatinine (71-1762 ng/mg creatinine). M indicates male; F, female; sat, saturation; and creat, creatinine.

Above-normal values.

†

Below-normal values.

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