Table 4.
Disease states in pediatric and adult patients (N = 28).
| Pediatric patients (N = 25) | Adult patients (N = 3) | |||||
|---|---|---|---|---|---|---|
| HbS/S (± heterozygous α-thalassemia) | HbS/C disease | β-thalassemia (homozygous β0, homozygous β+, compound heterozygous β++; ± heterozygous α-thalassemia; ± homozygous HPFH) | HbH disease | HbH disease | ||
| Number | 13 | 5 | 5 | 2 | 3 | |
| Gender (female, %) | 8 (61) | 5 (100) | 4 (80) | 2 (100) | 3 (100) | |
| Age at diagnosis (mos./yrs.) (median, range) | 30 mos., 5–94 mos. | 8 yrs., 1–8 yrs. | 8 yrs., 3–13 yrs. | 12 yrs. | 17 yrs. | 33 yrs., 18–40 yrs. |
| Hb (g/dl) (median, range) | 10, 7.2–11.3 | 10.9, 9.7–11 | 9.7, 8.1–11.6 (transfused) | 10.1 | 10.5 | 9.1, 7.7–9.6 |
| MCV (fl) (median, range) | 78.5, 71.7–94.6 | 75.3, 60.9–78 | 68.6, 61.8–79.2 (transfused) | 66.7 | 82.3 | 83.7, 73.2–103.6 |
| MCH (pg) (median, range) | 26, 22.2–30 | 24.9, 22.9–26.5 | 20.8, 19.2–27.3 (transfused) | 19.6 | 27.6 | 25.8, 23.6–27.9 |
| ARC (nl) (median, range) | 231.8, 77.5–393.4 (N = 12) | 120.6, 119.4–189.6 | 94.8, 43.3–188.1 (transfused; N = 4) | 121.8 | NV | NV |
| LDH (U/l) (median, range) | 543, 349–668 (N = 7) | 297, 268–365 | 483, 195–634 (transfused; N = 4) | NV | NV | NV |
| Total bilirubin (mg/dl) (median, range) | 1.6, 0.9–4.5 (N = 7) | 1.1, 1–2.3 | 2.7, 1.5–4.1 (transfused; N = 4) | NV | NV | NV |
| Ferritin (μg/l) (median, range) | 98, 34–372 (N = 8) | 70, 28–185 | 137, 20–201 (transfused) | NV | 20.7 | 94, 45–106 |
ARC absolute reticulocyte count, Hb hemoglobin, HPFH hereditary persistence of fetal hemoglobin, LDH lactate dehydrogenase, MCH mean corpuscular hemoglobin, MCV mean corpuscular volume, mos. months, NV no value. yrs. years.