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Table 1 Hematological characteristics of studied family members

From: A rare mutation (p.F149del) of the NT5C3A gene is associated with pyrimidine 5′-nucleotidase deficiency

Studied members of the family

Age (years)

RBC (T/L)

HCT (L/L)

Hb (mmol/L)

Total bilirubin (µmol/L)

Ret (fraction)

EMA test (MFI)*

References for male

Adults

4.2–6.0

0.40–0.54

8.69–11.17

3.42–22.24

0.005–0.015

References for female

Adults

4.0–5.0

0.37–0.47

7.54–9.93

3.42–22.24

0.005–0.015

Asymptomatic family members

EK (female)

31

4.92

0.43

9.18

8.21

0.020

ND

AK (male)

61

4.70

0.44

9.62

8.04

0.007

ND

Patients with HA

RK (male)

41

3.43 ± 0.12

0.34 ± 0.01

7.08 ± 0.21

32.07 ± 3.02

0.048 ± 0.029

5.73 (ref. 5.1 ± 0.4)

MK (male)

36

3.36 ± 0.15

0.30 ± 0.01

6.14 ± 0.16

111.23 ± 27.70

0.065 ± 0.021

114.05 (ref. 98.31–110.23)

  1. RBC, erythrocytes; HCT, hematocrit; Hb, hemoglobin; Ret, reticulocytes; MFI, mean fluorescence intensity; ND, not determined. *The analyses were performed by two independent laboratories