TABLE 1.
Clinical manifestations and routine laboratory findings of 28 children with newly diagnosed HS mutations in China
| Clinical characteristics | Total (n = 28) | Mild (n = 6, 21%) | Moderate (n = 9, 32%) | Severe (n = 13, 47%) |
|---|---|---|---|---|
| Males, n (%) | 15 (54) | 5 (83) | 3 (33) | 7 (54) |
| Age (years); median (range) | 3.5 (0.1–10.2) | 7.4 (0.7–9.4) | 1.3 (0.1–8.6) | 3.1 (0.2–10.2) |
| Family history, n (%) | 19 (68) | 6 (100) | 4 (44) | 9 (69) |
| Hemoglobin (g/L), median (range) | 61.5 (39–103) | 95.5 (90–103) | 71 (61–87) | 53 (39–60) |
| MCV (fl), median (range) | 84.8 (59–110.5) | 81.8 (59–88) | 86.5 (70–110.5) | 84.9 (76.6–100.8) |
| MCHC (%), median (range) | 327.5 (259–359) | 354.5 (317–359) | 329 (259–341) | 323 (277–355) |
| Reticulocytes (%), median (range) | 10.38 (0.23–25.07) | 5.74 (0.23–19.63) | 12.8 (7.23–20.78) | 10.3 (1.6–25.07) |
| Total bilirubin (µmol/L), median (range) | 44.3 (5.3–168.9) | 40.5 (5.3–85.4) | 38.8 (17.3–106.9) | 47.3 (23.3–168.9) |
| Splenomegaly, n (%) | 16 (57) | 2 (33) | 6 (67) | 8 (62) |
| Neonatal jaundice, n (%) | 18 (64) | 3 (50) | 5 (56) | 10 (77) |
| Transfusion, n (%) | 21 (75) | 0 (0) | 8 (89) | 13 (100) |
Abbreviations: MCHC, mean corpuscular hemoglobin concentration; MCV, mean corpuscular volume.