Table 1.

JAK2V617F mutation status of 2 sibling pairs with familial MPD


Characteristic

Sibling A11

Sibling A12

Sibling B11

Sibling B12
Diagnosis   PV   ET   PPVMF   PETMF  
JAK2V617F     
    Granulocytes   Positive   Negative   Positive   Negative  
    Buccal swab   Positive   Negative   ND   ND  
Age, y   47   44   67   74  
Sex   M   M   M   M  
Symptomatic disease   No   No   Yes   Yes  
Hb level, g/L   176   161   118   83  
WBC count, × 109/L   8.0   19.2   36.9   1.6  
Platelet count, × 109/L   329   660   218   231  
Splenomegaly
 
+
 
+
 
+
 
+
 

Characteristic

Sibling A11

Sibling A12

Sibling B11

Sibling B12
Diagnosis   PV   ET   PPVMF   PETMF  
JAK2V617F     
    Granulocytes   Positive   Negative   Positive   Negative  
    Buccal swab   Positive   Negative   ND   ND  
Age, y   47   44   67   74  
Sex   M   M   M   M  
Symptomatic disease   No   No   Yes   Yes  
Hb level, g/L   176   161   118   83  
WBC count, × 109/L   8.0   19.2   36.9   1.6  
Platelet count, × 109/L   329   660   218   231  
Splenomegaly
 
+
 
+
 
+
 
+
 

Hb indicates hemoglobin; WBC, white blood cell; PV, polycythemia vera; ET, essential thrombocythemia; PPVMF, postpolycythemic myelofibrosis; PETMF, postthrombocythemic myelofibrosis; ND, not done; M, male; and +, present.

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