Clinical and laboratory data of the 3 siblings
| Identity . | Proband . | Sister . | Brother . | Mother . | Father . | ||||
|---|---|---|---|---|---|---|---|---|---|
| Age at first transfusion, y | 19.1 | 14.9 | 6.8 | ||||||
| Age at last transfusion, y | 24.5 | 23.3 | 18.1 | ||||||
| Total number of transfusions | 115 | 106 | 301 | ||||||
| Number of transfusions/y | 21.5 | 12.6 | 26.7 | ||||||
| Reference values | BFT | BLT | BFT | BLT | BFT | BLT | |||
| Hemoglobin, g/L | 120-150 | 67 | 88 | 60 | 92 | 46 | 94 | 125 | 146 |
| Erythrocytes, ×1012/L | 3.8-4.5 | 2.9 | 3.7 | 2.4 | 3.5 | 1.9 | 3.5 | ||
| Mean corpuscular volume, fL | 82-100 | 77 | 81 | 83 | 82 | 80 | 80 | 83 | 81 |
| Mean corpuscular Hb, pg | 27-32 | 23 | 24 | 25 | 26 | 24 | 26 | 28 | 28 |
| Reticulocytes, ×109/L | 50-100 | 38 | 37 | 14 | 35 | 19 | 21 | ||
| WBCs, ×109/L | 4.0-10 | 5.5 | 5.7 | 3.4 | 5.8 | 3.9 | 4.2 | 7.1 | 6.9 |
| Platelets, ×109/L | 150-400 | 301 | 183 | 307 | 197 | 247 | 152 | 239 | 319 |
| Bilirubin total, μmol/L | 5-20 | 19 | 23.6 | 8.6 | 12.3 | 8.6* | 9.2 | ||
| Lactate dehydrogenase, U/L | < 250 | 142 | 127 | 196 | 111 | 223 | 151 | ||
| GPT (ALT), U/L | < 45 | 35 | 100 | 6 | 77 | 19 | 92 | ||
| Serum iron, μmol/L | 11-36 | 244 | 36† | 46* | 38 | 37 | 34 | 5.5 | 19 |
| Serum ferritin, μg/L | 18-200 | 308 | 1552* | 258* | 2816 | 902 | 3157 | 14 | 160 |
| Serum transferrin, g/L | 2.0-3.7 | 1.8* | NA | 2.1* | 1.8 | 1.7 | 1.7 | ||
| Serum transferrin saturation, % | 20-50 | 83* | NA | 88* | 83 | 87 | 77 | ||
| Liver iron concentration, mg/g wet weight‡ | 0.1-0.5 | 2.3 | 2.9 | 4.4 | |||||
| Zinc protoporphyrin, μmol/mol heme | < 40 | ND | 90 | ND | 89 | ND | 44 | ||
| Serum hepcidin, μg/L | Males, 29-254; females, 16-288 | 64 | 405 | 284 | |||||
| Identity . | Proband . | Sister . | Brother . | Mother . | Father . | ||||
|---|---|---|---|---|---|---|---|---|---|
| Age at first transfusion, y | 19.1 | 14.9 | 6.8 | ||||||
| Age at last transfusion, y | 24.5 | 23.3 | 18.1 | ||||||
| Total number of transfusions | 115 | 106 | 301 | ||||||
| Number of transfusions/y | 21.5 | 12.6 | 26.7 | ||||||
| Reference values | BFT | BLT | BFT | BLT | BFT | BLT | |||
| Hemoglobin, g/L | 120-150 | 67 | 88 | 60 | 92 | 46 | 94 | 125 | 146 |
| Erythrocytes, ×1012/L | 3.8-4.5 | 2.9 | 3.7 | 2.4 | 3.5 | 1.9 | 3.5 | ||
| Mean corpuscular volume, fL | 82-100 | 77 | 81 | 83 | 82 | 80 | 80 | 83 | 81 |
| Mean corpuscular Hb, pg | 27-32 | 23 | 24 | 25 | 26 | 24 | 26 | 28 | 28 |
| Reticulocytes, ×109/L | 50-100 | 38 | 37 | 14 | 35 | 19 | 21 | ||
| WBCs, ×109/L | 4.0-10 | 5.5 | 5.7 | 3.4 | 5.8 | 3.9 | 4.2 | 7.1 | 6.9 |
| Platelets, ×109/L | 150-400 | 301 | 183 | 307 | 197 | 247 | 152 | 239 | 319 |
| Bilirubin total, μmol/L | 5-20 | 19 | 23.6 | 8.6 | 12.3 | 8.6* | 9.2 | ||
| Lactate dehydrogenase, U/L | < 250 | 142 | 127 | 196 | 111 | 223 | 151 | ||
| GPT (ALT), U/L | < 45 | 35 | 100 | 6 | 77 | 19 | 92 | ||
| Serum iron, μmol/L | 11-36 | 244 | 36† | 46* | 38 | 37 | 34 | 5.5 | 19 |
| Serum ferritin, μg/L | 18-200 | 308 | 1552* | 258* | 2816 | 902 | 3157 | 14 | 160 |
| Serum transferrin, g/L | 2.0-3.7 | 1.8* | NA | 2.1* | 1.8 | 1.7 | 1.7 | ||
| Serum transferrin saturation, % | 20-50 | 83* | NA | 88* | 83 | 87 | 77 | ||
| Liver iron concentration, mg/g wet weight‡ | 0.1-0.5 | 2.3 | 2.9 | 4.4 | |||||
| Zinc protoporphyrin, μmol/mol heme | < 40 | ND | 90 | ND | 89 | ND | 44 | ||
| Serum hepcidin, μg/L | Males, 29-254; females, 16-288 | 64 | 405 | 284 | |||||
BFT indicates before first transfusion; BLT, before last transfusion; GPT, glutamate pyruvate transaminase; ALT, alanine aminotransferase; NA, not available; ND, not determined.
More than 11 months before first transfusion.
More than 29 months before last transfusion.
Measured by biomagnetometry (SQUID).