Table 1. Characteristics of C282Y... | American Society of Hematology

Table 1.

Characteristics of C282Y homozygotes at the 2001 investigation

Subject no.	Age at investigation, y	Previous hemochromatosis diagnosis	Blood donor, units	Transferrin saturation, %	Ferritin, μg/L	Liver disease^*	Diabetes mellitus†	Hypogonadism‡	Cardiomyopathy	Arthritis
Women
1	35	No	0	58	330	No	No	No	No	Arthralgia
2	42	No	0	6	24	No	No	No	No	No
3	48	No	0	45	351	No	No	No	No	No
4	51	No	0	66	116	No	No	No	No	No
5§	52	No	ND	100	117	No	No	No	No	No
6	56	No	12	77	73	No	No	No	No	No
7	57	No	2	63	280	No	No	No	No	Arthralgia
8§	66	No	ND	73	646	No	No	No	No	No
9	65	No	>50	55	623	No	No	No	No	No
10	67	No	0	44	43	No	No	No	No	No
11	73	No	10	77	570	No	No	No	No	No
12	76	No	0	86	156	No	No	No	No	No
13	77	No	0	56	595	No	Yes†	No	No	No
14	81	No	0	84	813	No	No	No	No	No
15	85	No	0	57	710	No	No	No	No	No
16	85	No	0	89	424	No	No	No	No	No
Men
17∥	45	Yes∥	0	80	452	No	No	No	No	No
18§	58	No	ND	63	1162	No	No	No	No	No
19	49	No	0	50	511	No	No	No	No	No
20	60	No	0	74	2062	No	No	No	No	No
21	63	No	0	75	557	No	No	No	No	No
22	77	No	0	45	188	No	No	No	No	No
23	81	No	0	97	668	No	No	No	No	No

Subject no.	Age at investigation, y	Previous hemochromatosis diagnosis	Blood donor, units	Transferrin saturation, %	Ferritin, μg/L	Liver disease^*	Diabetes mellitus†	Hypogonadism‡	Cardiomyopathy	Arthritis
Women
1	35	No	0	58	330	No	No	No	No	Arthralgia
2	42	No	0	6	24	No	No	No	No	No
3	48	No	0	45	351	No	No	No	No	No
4	51	No	0	66	116	No	No	No	No	No
5§	52	No	ND	100	117	No	No	No	No	No
6	56	No	12	77	73	No	No	No	No	No
7	57	No	2	63	280	No	No	No	No	Arthralgia
8§	66	No	ND	73	646	No	No	No	No	No
9	65	No	>50	55	623	No	No	No	No	No
10	67	No	0	44	43	No	No	No	No	No
11	73	No	10	77	570	No	No	No	No	No
12	76	No	0	86	156	No	No	No	No	No
13	77	No	0	56	595	No	Yes†	No	No	No
14	81	No	0	84	813	No	No	No	No	No
15	85	No	0	57	710	No	No	No	No	No
16	85	No	0	89	424	No	No	No	No	No
Men
17∥	45	Yes∥	0	80	452	No	No	No	No	No
18§	58	No	ND	63	1162	No	No	No	No	No
19	49	No	0	50	511	No	No	No	No	No
20	60	No	0	74	2062	No	No	No	No	No
21	63	No	0	75	557	No	No	No	No	No
22	77	No	0	45	188	No	No	No	No	No
23	81	No	0	97	668	No	No	No	No	No

ND indicates no data.

Based on symptoms; aspartate aminotransferase level > 50 IU/L; alkaline phosphatase level > 275 IU/L; coagulation factors II + VII + X < 70%; bilirubin level > 17 μM.

†

Based on symptoms; nonfasting glucose level > 8.3 mM; HbA1c (β-N-valyl-1-deoxyfructose hemoglobin) > 0.063. Subject no. 13 was on insulin.

‡

Based on symptoms; follicle-stimulating hormone levels < 24 IU/L for postmenopausal women, < 1.3 IU/L for others; luteinzing hormone levels < 13.5 IU/L for postmenopausal women, < 1.3 IU/L for others.

Subject nos. 5, 8, and 18 died before 2001; their data are from the 1991-1994 examination.

∥

Subject no. 17 was diagnosed with subclinical hemochromatosis in late 1999; all his data refer to this time point.

View Large

This Feature Is Available To Subscribers Only