Table 1

Hematologic indices for erythrocytosis patients positive for HIF-2α exon 12 mutations

H1*H2H3H4H5
HIF mutation Gly537Trp Met535Val Gly537Arg Gly537Arg Gly537Arg 
Age at presentation, y 23 23 20 16 21 
Hemoglobin, g/L 217 191 181 201 205 
Hematocrit 0.64 0.57 0.52 0.62 NA 
WBC, ×109/L 7.2 6.0 normal 6.1 normal 
Platelets, ×109/L 226 223 normal 168 normal 
Epo, IU/L (NR) Hb, Hct† 31.1 (2.5-10.5) 186, 0.55 42.6 (5.3-16.5) 158, 0.47 112 (10-21) 133, 0.44 >200 (3-20) 124, NA 66 (2.5-10.5) 173, 0.60 
H1*H2H3H4H5
HIF mutation Gly537Trp Met535Val Gly537Arg Gly537Arg Gly537Arg 
Age at presentation, y 23 23 20 16 21 
Hemoglobin, g/L 217 191 181 201 205 
Hematocrit 0.64 0.57 0.52 0.62 NA 
WBC, ×109/L 7.2 6.0 normal 6.1 normal 
Platelets, ×109/L 226 223 normal 168 normal 
Epo, IU/L (NR) Hb, Hct† 31.1 (2.5-10.5) 186, 0.55 42.6 (5.3-16.5) 158, 0.47 112 (10-21) 133, 0.44 >200 (3-20) 124, NA 66 (2.5-10.5) 173, 0.60 

NA indicates not available.

*

Previously reported.16 

†

Hb and Hct measurements at the time the Epo assay was performed.

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