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Table 1 Clinical characteristics of patients with HS in Korea

From: Molecular diagnosis of hereditary spherocytosis by multi-gene target sequencing in Korea: matching with osmotic fragility test and presence of spherocyte

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

  1. Abbreviation: HS hereditary spherocytosis, NA not assessable