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Table 2 The clinical data of three families

From: A novel G6PD deleterious variant identified in three families with severe glucose-6-phosphate dehydrogenase deficiency

Items Family 1 Family 2 Family 3
patient I1 I2 II1 II2 II3 III1 III2 I1 I2 II1 II2 I1 I2 II1
age 61 59 39 36 27 2.5 0.5 36 37 8 1 32 29 0.5
Clinical diagnosis N CHM N CHM N D-G6PD N N CHM CHM D-G6PD N CHM D-G6PD
G6PD activity (%) 97.5 63.8 98.3 65.8 96.4 3.5 98.1 96.2 67.2 66.1 4.6 95.8 61.8 5.1
RBC (1012/L) 4.78 3.28 3.98 3.24 4.54 2.72 4.59 4.98 3.78 3.04 1.73 4.51 3.46 2.61
Hb(g/L) 155 95 129 93 148 89 134 133 109 97 54 146 95 99
HCT (%) 0.44 0.29 0.36 0.28 0.42 0.26 0.40 0.41 0.33 0.28 0.15 0.43 0.29 0.29
TBIL (unol/L) 17.39 10.1 14.7 11.62 8.70 158.1 13.1 5.9 21.9 17.0 57.2 18.65 6.76 154.27
DBIL (unol/L) 5.4 2.3 4.1 2.8 2.0 19.5 2.8 2.0 6.1 5.2 10.9 6.8 3.0 17.5
  1. All the test results of the patients were from the clinical tests in the clinical laboratory. The clinical laboratory performs quality control every day to ensure the reliability and accuracy of the test results
  2. N normal, CHM chronic hemolytic anemia, RBC BRI adult 3.8–5.1 1012/L, child 3.1–5.3 1012/L, Hb BRI adult 115–150 g/L, child 110–149 g/L, HCT BRI adult 0.35–0.45, child 0.40–0.50), TBIL BRI 2–22 unol/L, DBIL BRI 0–7.0 unol/L, BRI biological reference Interval, RBC red cell count, Hb hemoglobin, HCT hematocrit, TBIL total bilirubin, DBIL direct bilirubin