Table 1

Clinical characteristics of PRKACG-related thrombocytopenia patients

Family memberAge at diagnosis (years)Current age (years)Platelet count (×109/L)MPV (fL)Hemoglobin (g/dL)Leukocytes (×109/L)Bleeding scoreTPO level (ng/L)
I-1  44 210 10.3 11 4.5 NB 35 
II-1 23 ND 23 
II-2 26 ND 12.3 5.6 25 
II-3  21 229 10.8 12.9 7.1 NB 20 
III-1  276 10.4 10.4 NB 30 
III-2  90 d 277 11 17 14 NB ND 
Family memberAge at diagnosis (years)Current age (years)Platelet count (×109/L)MPV (fL)Hemoglobin (g/dL)Leukocytes (×109/L)Bleeding scoreTPO level (ng/L)
I-1  44 210 10.3 11 4.5 NB 35 
II-1 23 ND 23 
II-2 26 ND 12.3 5.6 25 
II-3  21 229 10.8 12.9 7.1 NB 20 
III-1  276 10.4 10.4 NB 30 
III-2  90 d 277 11 17 14 NB ND 

Normal TPO level, <30 ng/L. MPV, mean platelet volume; NB, no bleeding; ND, not done.