Table 1.

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.

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