Table 2.
The clinical data of three families
| 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 |
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
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