Descriptive data on iron parameters of the relatives, sorted by HJV and HFE genotype
| Codea . | Sex . | Year of birth . | HFE genotype . | HJV genotype . | Current . | Iron removed/ageb, g/years . | 1970s . | |||
|---|---|---|---|---|---|---|---|---|---|---|
| TS, % . | Ferritin, μg/L . | Urinary hepcidin, M Int/mmol creat . | TS, % . | DFO-testc Mmol . | ||||||
| B III-54de | M | 1956 | Ht | Ho | 87 | 56 | 0.04i | 1.02 | 93 | 159j |
| B III-7e | F | 1943 | Ho | Ht | 53 | 76 | 2.50 | 0.23 | 53 | 32.3 |
| B III-12ef | F | 1951 | Ho | Ht | 71 | 36 | 0.60i | 0.53 | 89 | 32.9 |
| B II-12e | M | 1924 | Ho | Ht | 60 | 96 | 0.83 | 0.37 | 86 | 107k |
| B III-85e | M | 1950 | Ho | Ht | 21 | 30 | 0.10i | 0.36 | 83 | 36.9 |
| B III-86g | F | 1953 | Ho | Ht | 58 | 147 | 1.56 | 0.12 | 85 | 45.0 |
| B III-2 | F | 1937 | Ht | Ht | 30 | 304 | 2.98 | NA | 44 | 19.0 |
| B III-5 | F | 1940 | Ht | Ht | 27 | 185 | 6.12 | NA | 38 | 28.0 |
| B III-10 | F | 1947 | Ht | Ht | 29 | 107 | 2.91 | NA | 40 | 17.1 |
| B III-48 | M | 1943 | Ht | Ht | 34 | 190 | 8.30 | NA | 43 | 19.1 |
| B III-50 | M | 1945 | Ht | Ht | 23 | 30 | 0.04 | NA | 35 | 31.2 |
| B III-52f | F | 1949 | Ht | Ht | 46 | 62 | 0.75 | NA | 46 | 17.6 |
| B III-87 | M | 1956 | Ht | Ht | 23 | 351 | 6.32 | NA | 55 | 22.0 |
| B III-3f | F | 1938 | Ho | Wt | 65 | 354 | 1.93 | 0.89 | 87 | 46.0 |
| B III-88eh | M | 1959 | Ho | Wt | 39 | 53 | 0.31 | 0.30 | 57 | 21.1 |
| B III-89eh | M | 1959 | Ho | Wt | 51 | 87 | 1.06i | 0.28 | 54 | 23.2 |
| B III-1 | F | 1936 | Ht | Wt | 24 | 275 | 5.35 | NA | 41 | 16.8 |
| B III-4 | M | 1939 | Ht | Wt | 18 | 310 | 7.77 | NA | 45 | 28.8 |
| B III-11 | F | 1949 | Ht | Wt | 24 | 56 | 2.07 | NA | 38 | 29.5 |
| B III-9f | M | 1946 | Wt | Wt | 58 | 821 | 5.13 | NA | 40 | 17.1 |
| Reference values | < 50 | 0.52-7.83l | NA | < 50 | < 30.3 | |||||
| Men | 15-280 | |||||||||
| Women < 50 years | 6-80 | |||||||||
| Women > 50 years | 15-190 | |||||||||
| Codea . | Sex . | Year of birth . | HFE genotype . | HJV genotype . | Current . | Iron removed/ageb, g/years . | 1970s . | |||
|---|---|---|---|---|---|---|---|---|---|---|
| TS, % . | Ferritin, μg/L . | Urinary hepcidin, M Int/mmol creat . | TS, % . | DFO-testc Mmol . | ||||||
| B III-54de | M | 1956 | Ht | Ho | 87 | 56 | 0.04i | 1.02 | 93 | 159j |
| B III-7e | F | 1943 | Ho | Ht | 53 | 76 | 2.50 | 0.23 | 53 | 32.3 |
| B III-12ef | F | 1951 | Ho | Ht | 71 | 36 | 0.60i | 0.53 | 89 | 32.9 |
| B II-12e | M | 1924 | Ho | Ht | 60 | 96 | 0.83 | 0.37 | 86 | 107k |
| B III-85e | M | 1950 | Ho | Ht | 21 | 30 | 0.10i | 0.36 | 83 | 36.9 |
| B III-86g | F | 1953 | Ho | Ht | 58 | 147 | 1.56 | 0.12 | 85 | 45.0 |
| B III-2 | F | 1937 | Ht | Ht | 30 | 304 | 2.98 | NA | 44 | 19.0 |
| B III-5 | F | 1940 | Ht | Ht | 27 | 185 | 6.12 | NA | 38 | 28.0 |
| B III-10 | F | 1947 | Ht | Ht | 29 | 107 | 2.91 | NA | 40 | 17.1 |
| B III-48 | M | 1943 | Ht | Ht | 34 | 190 | 8.30 | NA | 43 | 19.1 |
| B III-50 | M | 1945 | Ht | Ht | 23 | 30 | 0.04 | NA | 35 | 31.2 |
| B III-52f | F | 1949 | Ht | Ht | 46 | 62 | 0.75 | NA | 46 | 17.6 |
| B III-87 | M | 1956 | Ht | Ht | 23 | 351 | 6.32 | NA | 55 | 22.0 |
| B III-3f | F | 1938 | Ho | Wt | 65 | 354 | 1.93 | 0.89 | 87 | 46.0 |
| B III-88eh | M | 1959 | Ho | Wt | 39 | 53 | 0.31 | 0.30 | 57 | 21.1 |
| B III-89eh | M | 1959 | Ho | Wt | 51 | 87 | 1.06i | 0.28 | 54 | 23.2 |
| B III-1 | F | 1936 | Ht | Wt | 24 | 275 | 5.35 | NA | 41 | 16.8 |
| B III-4 | M | 1939 | Ht | Wt | 18 | 310 | 7.77 | NA | 45 | 28.8 |
| B III-11 | F | 1949 | Ht | Wt | 24 | 56 | 2.07 | NA | 38 | 29.5 |
| B III-9f | M | 1946 | Wt | Wt | 58 | 821 | 5.13 | NA | 40 | 17.1 |
| Reference values | < 50 | 0.52-7.83l | NA | < 50 | < 30.3 | |||||
| Men | 15-280 | |||||||||
| Women < 50 years | 6-80 | |||||||||
| Women > 50 years | 15-190 | |||||||||
CRP (< 10 mg/L), Hb (M: 8.1-10.7 mmol/L; W: 7.3-9.7 mmol/L), MCV (M: 84-103 fl; W: 85-104 fl), and ALAT (< 45 U/L) are within reference values for all individuals, except for male II-12, whose Hb was fairly high (11.5 mmol/L) and for male III-50, whose ALAT was slightly increased (48 U/L).
Ho indicates homozygous for the mutation; Ht, heterozygous for the mutation; Wt, wildtype for the mutation; NA, not applicable.
These are the codes as used before; roman numerals indicate the generation.
Grams of iron removed were calculated by multiplying the number of phlebotomies by 0.20 g (assuming 500 mL whole blood was withdrawn per phlebotomy).
Urinary iron concentration in 24 hrs after administration of 1000 mg Desferrioxamine intramuscular (DFO-test).
Proband; the proband in the studies in the early 1970s was his sister (Ba, III-512) who was born in 1947 and died in 1998 (1970s: TS: 78%; DFO-test: 376 μmol; liver iron content: 64.2 mmol/100 g dry weight).
Currently on maintenance therapy with phlebotomies.
Alcohol consumption > 15 units per week.
Phlebotomized in the past.
III-88 and III-89 are monozygotic twins.
Date of last phlebotomy less than 4 weeks in the past or unknown.
Liver iron content: 32.4 mmol/100 g dry weight.
Liver iron content: 17.1 mmol/100 g dry weight.
Based on the range of values observed in 20 healthy individuals.4