Characteristics | Total patients (n = 59) | Patients with gene mutation (n = 50) | Patients without gene mutation (n = 9) | P value between group with mutation vs. without mutation |
---|---|---|---|---|
Sex, n (%) | 0.597 | |||
 Male | 31 (52.0) | 27 (54.0) | 4 (44.4) |  |
 Female | 28 (48.0) | 23 (46.0) | 5 (55.6) | |
Age (years) | 0.566 | |||
 Median | 7 | 7 | 8 |  |
 Range | 1–81 | 1–81 | 2–17 | |
Family history of HS, n (%) | 0.139 | |||
 Positive | 20 (33.9) | 16 (32.0) | 4 (44.4) |  |
 Negative | 39 (66.1) | 34 (68.0) | 5 (55.6) | |
Clinical symptoms, n (%) | ||||
 Splenomegaly | 38/59 (64.4) | 31/50 (62.0) | 7/9 (77.8) | 0.363 |
 Neontal jaundice | 28/54 (51.9) | 24/45 (53.3) | 4/9 (44.4) | 0.724 |
 Hepatomegaly | 9/53 (17.0) | 9/44 (20.5) | 1/9 (11.1) | 1.000 |
 Splenectomy | 13/58 (22.4) | 10/49 (20.4) | 3/9 (40.0) | 0.398 |
 Aplastic crisis | 14/56 (25.0) | 11/47 (23.4) | 3/9 (30.0) | 0.676 |
 Gallstones | 10/57 (17.5) | 9/48 (18.8) | 1/9 (33.3) | 1.000 |
Hematologic parameters, mean | ||||
 Hemoglobin (g/dL) (range) | 8.4 (3.6–13.6) | 8.4 (3.6–13.6) | 8.3 (5.8–12.1) | 0.476 |
 MCV (fL) (range) | 80.9 (62.3–107.0) | 80.6 (62.3–107.0) | 85.3 (70.4–107.0) | 0.209 |
 MCHC (g/dL) (range) | 35.3 (30.8–38.2) | 35.2 (30.8–38.2) | 35.2 (31.5–37.9) | 0.279 |
Markers of hemolysis, mean | ||||
 Reticulocyte count (%) (range) | 7.5 (0.5–24.8) | 7.4 (0.5–24.8) | 7.2 (3.4–13.3) | 0.461 |
 Total bilirubin (mg/dL) (range) | 4.1 (0.8–19.1) | 4.0 (0.8–19.1) | 4.3 (1.1–6.4) | 0.320 |
 Direct bilirubin (mg/dL) (range) | 0.7 (0.2–1.3) | 0.7 (0.3–1.3) | 0.6 (0.4–0.8) | 0.640 |
 LDH (IU/L) (range) | 508 (187–1557) | 522 (187–1557) | 448 (198–737) | 0.843 |
Iron status parameters, mean | ||||
 Iron (μr/dL) (range) | 101 (26–245) | 98 (26–159) | 111 (51–245) | 0.198 |
 TIBC (μT/dL) (range) | 266 (108–486) | 269 (108–486) | 241 (195–274) | 0.769 |
 Ferritin (ng/mL) (range) | 342 (32–4671) | 360 (32–4671) | 339 (74–278) | 0.657 |
Grading of peripheral spherocytes, n (%) | 0.622 | |||
 0 | 5 (8.5) | 4 (8.0) | 1 (11.1) |  |
 1+ or slight (2–5%), | 18 (30.5) | 15 (30.0) | 3 (33.3) | |
 2+ or moderate (6–15%), | 20 (33.9) | 16 (32.0) | 4 (44.4) | |
 3+ or marked (> 16%) | 16 (27.1) | 15 (30.0) | 1 (11.1) | |
Sex, n (%) | 0.597 | |||
 Male | 31 (52.0) | 27 (54.0) | 4 (44.4) |  |
 Female | 28 (48.0) | 23 (46.0) | 5 (55.6) | |
Severity, n (%) | 0.678 | |||
 Mild | 6 (10.2) | 5 (10.0) | 1 (11.1) |  |
 Moderate | 27 (45.8) | 24 (48.0) | 3 (33.3) | |
 Severe | 26 (44.1) | 21 (42.0) | 5 (55.6) | |
Osmotic fragility tests, n (%) | 0.614 | |||
 Positive | 41 (69.5) | 33 (66.0) | 8 (88.9) |  |
 Negative | 6 (10.2) | 5 (10.0) | 1 (11.1) | |
 NA | 12 (20.3) | 12 (24.0) | 0 |