Table 1

Clinical details of patients with atypical haemochromatosis

Patient (sex)	Genotype^1-150	FH^†	Age at onset (y)	Clinical features	Fe removed (g)^‡	Liver histology/ grade hepatocyte siderosis/Kupffer siderosis /HII^§	Serum Fe/TIBC^π^¶ (μmol/l) 11-36/53-85^**	Transferrin saturation (%) 20-40^**	Serum ferritin (μg/l) (F)^ 14-148 (M)^39-340	β₂-microglobulin (mg/l)/date ddmmyy 1.3-2.4^**
1 (M)	1	N^††	24	Cardiomyopathy, hypogonadism	14	No biopsy^‡‡	31/33	94	3350	1.2/210497
2 (M)	1	Y	16^§§	FH cardiomyopathy	10	F/4/K—	42/44	95	2082	—
3 (M)	1	Y	36	Apparent autosomal dominant inheritance	12	Minimal F/2/K heavy siderosis	26/45	58	4579	1.2/070197 1.7/080497 1.8/060198
4 (F)	1	Y	34	Apparent aut dom inher, ? minimal dyserythropoiesis	8	No F/2/K predominant siderosis	14/45	31	1150	1.2/080897 1.3/190598
5 (M)	1	N	66	Arthralgia, colonic polyps	5	Minimal F/2-3/ K—/HII=1.7	42/57	74	1300	1.8/290197 <1/220497
6 (M)	2	N	38	Diabetes mellitus, hypogonadism, arthropathy	14	C/4/K+/HII=5.0	25/40	63	NK	2.7/020297 2.6/041297 1.4/210198

↵1-150 Genotype 1 is negative for the H63D, S65C, and C282Y mutations; genotype 2 is negative for H63D and S65C and heterozygous for C282Y; the remainder of the HFE coding sequence was normal in all cases. ^†FH denotes family history. ^‡Iron removed by venesection (and desferrioxamine therapy in patient 1). ^§F denotes fibrosis, C, cirrhosis, K, Kupffer cell siderosis (—, absent; +, present), HII, hepatic iron index. ^¶TIBC, total iron binding capacity. ^**Normal ranges for the clinical laboratory measurements. ^††Patient 1 is adopted, so there is no known family history. ^‡‡Cardiac biopsy showed haemosiderin in myocytes. ^§§Diagnosed at age 16 during family screening after cardiac death of brother with severe iron overload.5 M, male, F, female, NK, not known.