Albertine Donker

Chapter 6 208 Table 1. Hematological, biochemical and molecular data, and treatment characteristics of 15 patients from 11 unrelated families diagnosed with X-linked sideroblastic anemia Patient characteristics Laboratory characteristics ID 1 Age (yrs) Sex (M/F) Hb (mmol/L) MCV (fL) Ferritin (μg/L) TSAT (%) 1A at presentation 72 F 6.0 76 nd nd death 79 nd nd nd nd 1B son at presentation 25 M 5.3 65 117 3 40 3 with therapy 46 7.2 69 135 nd with therapy 61 7.6 63 244 32 2A 4,5 at presentation 66 M 7.8 68 346 57 with therapy 69 7.2 70 316 48 2B grandchild at presentation 2 M 6.8 nd 180 94 with therapy 16 7.4 70 454 97 with therapy 7.8 71 72 80 3 at presentation 35 M 4.3 56 5040 86 6 with therapy 47 8.0 64 1162 nd with therapy 62 8.3 65 516 67 4 at presentation 25 M 7.1 69 220 48 with therapy 34 7.0 70 281 42 with therapy 40 7.2 71 526 24 5A at presentation <21 M 3.9 59 158 35 with therapy 54 7.8 71 260 47 5B brother at presentation 23 M 6.2 59 1200 nd with therapy 53 8.4 68 259 37 6 at presentation 32 M 6.8 71 258 52 with therapy 54 7.4 76 150 48 7 at presentation <28 M 7.2 70 193 43 with therapy 51 6.6 66 275 42 8 at presentation <28 M 7.1 62 573 82 7 with therapy 32 7.1 62 546 82