Demographic features and common complications of enrolled patients
| Characteristics . | All (N = 254*) . | Amish (n = 55) . | Non-Amish (n = 199) . | |||
|---|---|---|---|---|---|---|
| n . | . | n . | . | n . | . | |
| Sex | ||||||
| Male | 124 | 49% | 14 | 25% | 110 | 55% |
| Female | 130 | 51% | 41 | 75% | 89 | 45% |
| Age at diagnosis, y (range) | 243† | 0.4 (0-60.3) | 52 | 0 (0-10) | 191 | 1.1 (0-60.3) |
| Age at enrollment, y (range) | ||||||
| Overall | 254 | 19.0 (0.1-69.9) | 55 | 23.4 (0.2-60) | 199 | 17.6 (0.1-69.9) |
| <18 | 123 | 6.4 (0.1-17.7) | 22 | 7.4 (0.2-16.4) | 101 | 6.1 (0.1-17.7) |
| ≥18 | 131 | 36.2 (18.0-69.9) | 33 | 39.8 (18-60.4) | 98 | 35.4 (18.2-69.9) |
| White race | 235 | 92.5% | 55 | 100% | 180 | 90% |
| Hispanic ethnicity | 18 | 7.1% | 0 | 0% | 18 | 9% |
| Median number of lifetime transfusions (range) | 191 | 18 (1-516) | 39 | 12 (1-153) | 152 | 25 (1-516) |
| Splenectomized | 150 | 59% | 51 | 93% | 99 | 50% |
| Gallstones | 112/248 | 45% | 24 | 10% | 88 | 35% |
| Extramedullary hematopoiesis | 23/254 | 9% | 15 | 27% | 8 | 4% |
| Hepatic | 14 | 11 | 3 | |||
| Splenic | 14 | 11 | 3 | |||
| Paraspinous | 8 | 7 | 1 | |||
| Mediastinal | 7 | 7 | 0 | |||
| Pulmonary hypertension | 8/237 | 3% | 1 | 2% | 7 | 4% |
| Leg ulcers | 4/240 | 2% | 0 | 0% | 4 | 2% |
| Aplastic crises | 34/245 | 14% | 6 | 11% | 28 | 15% |
| Liver cirrhosis | 8/240 | 3% | 2 | 4% | 6 | 3% |
| Bone fracture | 41/239 | 17% | 7 | 13% | 34 | 18% |
| Endocrine dysfunction | ||||||
| Thyroid disease | 11/241 | 5% | 3 | 6% | 8 | 4% |
| Growth hormone deficiency | 6/236 | 3% | 0 | 0% | 6 | 3% |
| Hypoparathyroidism | 3/232 | 1% | 1 | 2% | 2 | 3% |
| Diabetes | 2/250 | 1% | 0 | 0% | 2 | 1% |
| Hypogonadal hypogonadism | 0/233 | 0% | 0 | 0% | 0 | 0% |
| Post pubertal | 148/251 | 59% | 39 | 71% | 109 | 56% |
| Normal puberty | 128/138‡ | 94% | 35 | 97% | 94 | 92% |
| Hormones administered | 2/115‡ | 2% | 0 | 0% | 2 | 2% |
| Slowed/delayed puberty | 9/118‡ | 8% | 1 | 3% | 8 | 9% |
| Characteristics . | All (N = 254*) . | Amish (n = 55) . | Non-Amish (n = 199) . | |||
|---|---|---|---|---|---|---|
| n . | . | n . | . | n . | . | |
| Sex | ||||||
| Male | 124 | 49% | 14 | 25% | 110 | 55% |
| Female | 130 | 51% | 41 | 75% | 89 | 45% |
| Age at diagnosis, y (range) | 243† | 0.4 (0-60.3) | 52 | 0 (0-10) | 191 | 1.1 (0-60.3) |
| Age at enrollment, y (range) | ||||||
| Overall | 254 | 19.0 (0.1-69.9) | 55 | 23.4 (0.2-60) | 199 | 17.6 (0.1-69.9) |
| <18 | 123 | 6.4 (0.1-17.7) | 22 | 7.4 (0.2-16.4) | 101 | 6.1 (0.1-17.7) |
| ≥18 | 131 | 36.2 (18.0-69.9) | 33 | 39.8 (18-60.4) | 98 | 35.4 (18.2-69.9) |
| White race | 235 | 92.5% | 55 | 100% | 180 | 90% |
| Hispanic ethnicity | 18 | 7.1% | 0 | 0% | 18 | 9% |
| Median number of lifetime transfusions (range) | 191 | 18 (1-516) | 39 | 12 (1-153) | 152 | 25 (1-516) |
| Splenectomized | 150 | 59% | 51 | 93% | 99 | 50% |
| Gallstones | 112/248 | 45% | 24 | 10% | 88 | 35% |
| Extramedullary hematopoiesis | 23/254 | 9% | 15 | 27% | 8 | 4% |
| Hepatic | 14 | 11 | 3 | |||
| Splenic | 14 | 11 | 3 | |||
| Paraspinous | 8 | 7 | 1 | |||
| Mediastinal | 7 | 7 | 0 | |||
| Pulmonary hypertension | 8/237 | 3% | 1 | 2% | 7 | 4% |
| Leg ulcers | 4/240 | 2% | 0 | 0% | 4 | 2% |
| Aplastic crises | 34/245 | 14% | 6 | 11% | 28 | 15% |
| Liver cirrhosis | 8/240 | 3% | 2 | 4% | 6 | 3% |
| Bone fracture | 41/239 | 17% | 7 | 13% | 34 | 18% |
| Endocrine dysfunction | ||||||
| Thyroid disease | 11/241 | 5% | 3 | 6% | 8 | 4% |
| Growth hormone deficiency | 6/236 | 3% | 0 | 0% | 6 | 3% |
| Hypoparathyroidism | 3/232 | 1% | 1 | 2% | 2 | 3% |
| Diabetes | 2/250 | 1% | 0 | 0% | 2 | 1% |
| Hypogonadal hypogonadism | 0/233 | 0% | 0 | 0% | 0 | 0% |
| Post pubertal | 148/251 | 59% | 39 | 71% | 109 | 56% |
| Normal puberty | 128/138‡ | 94% | 35 | 97% | 94 | 92% |
| Hormones administered | 2/115‡ | 2% | 0 | 0% | 2 | 2% |
| Slowed/delayed puberty | 9/118‡ | 8% | 1 | 3% | 8 | 9% |
Countries (No. of patients enrolled) were United States (154), Germany (31), Italy (25), The Netherlands (23), Canada (14), and Czech Republic (7).
N, total number of patients with data available for the characteristic; n, number of patients per demographic characteristic.
Some denominators are less than 254 because some patients had unknown data.
Eleven patients had unknown age at diagnosis.
One hundred forty-eight patients were post pubertal; however, some patients had unknown data.