Albertine Donker

Chapter 6 210 Table 1. Continued Patient characteristics Laboratory characteristics ID 1 Age (yrs) Sex (M/F) Hb (mmol/L) MCV (fL) Ferritin (μg/L) TSAT (%) 9A at presentation 30 M 6.8 70 610 52 with therapy 8 32 7.4 70 436 48 9B 8 grandfather at presentation nd M nd nd nd nd with therapy nd nd nd nd 10 at presentation 13 M 6.8 68 99 34 with therapy 10 14 6.8 68 64 58 11 at presentation 18 M 7.5 70 252 56 with therapy 18 7.6 76 191 30 1 Numbers stand for families -probands are mentioned- for families 1, 2, 5, and 9, also a 2 nd affected relative is included; 2 hemizygous for men and heterozygous for women; 3 At age 28 years; 4 patient 2 was originally diagnosed with iron overload at the age of 38 years, which later at 57 years was attributed to hereditary haemochromatosis due to heterozygosity for the p.Cys282Tyr mutation in the HFE gene. Treatment with phlebotomies was started. Because of low Hb levels and ferritin levels within the reference range, phlebotomies were stopped at the age of 51 years; 5 Patient previously reported in Cuijpers et al 18 ; 6 At age 38 years, no earlier values available;