Relevant hematologic findings in the PKLR-deficient patient
. | Patient . | . | Patient's parents . | . | . | ||
|---|---|---|---|---|---|---|---|
| Hematologic finding . | At diagnosis . | After splenectomy . | Mother . | Father . | Normal values . | ||
| Hemoglobin, g/L | 64 | 86 | 138 | 163 | 120-160 | ||
| Reticulocytes, % | >95 | >95 | 1.6 | 1.7 | 0.8-3.5 | ||
| Erythroblasts, per 100 WBCs | 15 | 26 | UD | UD | UD | ||
| PK, IU/gHb | <1 | 1.3 | 8.3 | 7.8 | 15 ± 1.99 | ||
| 2,3-DPG, mmol/g Hb | ND | 36.1 | 12.8 | 13.3 | 10.5-15.1 | ||
| ATP, mmol/g Hb | ND | 4404 | 4540 | 2832 | 4230 ± 290 | ||
| ADP, mmol/g Hb | ND | 758 | 525 | 779 | 635 ± 105 | ||
| AMP, mmol/g Hb | ND | 109 | 73 | 72 | 62 ± 10 | ||
. | Patient . | . | Patient's parents . | . | . | ||
|---|---|---|---|---|---|---|---|
| Hematologic finding . | At diagnosis . | After splenectomy . | Mother . | Father . | Normal values . | ||
| Hemoglobin, g/L | 64 | 86 | 138 | 163 | 120-160 | ||
| Reticulocytes, % | >95 | >95 | 1.6 | 1.7 | 0.8-3.5 | ||
| Erythroblasts, per 100 WBCs | 15 | 26 | UD | UD | UD | ||
| PK, IU/gHb | <1 | 1.3 | 8.3 | 7.8 | 15 ± 1.99 | ||
| 2,3-DPG, mmol/g Hb | ND | 36.1 | 12.8 | 13.3 | 10.5-15.1 | ||
| ATP, mmol/g Hb | ND | 4404 | 4540 | 2832 | 4230 ± 290 | ||
| ADP, mmol/g Hb | ND | 758 | 525 | 779 | 635 ± 105 | ||
| AMP, mmol/g Hb | ND | 109 | 73 | 72 | 62 ± 10 | ||
Hb indicates hemoglobin; ND, not determined; UD, undetected.