Table 1.

Hematologic parameters of the proband and her family

ParameterProbandMotherAuntCousin 1Cousin 2Cousin 3Father
(19 y.o.)(15 y.o.)(14 y.o.)
WBC (× 109/L) 6.63 5.01 5.08 6.25 7.11 5.89 4.86 
RBC (× 1012/L) 4.93 5.04 4.13 5.33 4.83 4.46 4.91 
Hb (g/dL) 14.3 8.7 12.3 16.9 14.9 12.7 13.3 
Hct (%) 41.5 32.3 37.8 48.9 43.6 38.4 41.3 
MCV (fL) 84.2 64.1 91.5 91.7 90.3 86.1 84.1 
MPV (fL) 12.7 N.D. 12.3 13.1 10.5 9.5 9.7 
PLT (× 109/L) 91 86 85 96 289 368 225 
RP% 11.1 7.9 9.7 10.3 9.8 8.7 4.9 
TPO (pg/mL) 9.0 34.0 16.0 12.0 9.0 8.4 30.0 
ParameterProbandMotherAuntCousin 1Cousin 2Cousin 3Father
(19 y.o.)(15 y.o.)(14 y.o.)
WBC (× 109/L) 6.63 5.01 5.08 6.25 7.11 5.89 4.86 
RBC (× 1012/L) 4.93 5.04 4.13 5.33 4.83 4.46 4.91 
Hb (g/dL) 14.3 8.7 12.3 16.9 14.9 12.7 13.3 
Hct (%) 41.5 32.3 37.8 48.9 43.6 38.4 41.3 
MCV (fL) 84.2 64.1 91.5 91.7 90.3 86.1 84.1 
MPV (fL) 12.7 N.D. 12.3 13.1 10.5 9.5 9.7 
PLT (× 109/L) 91 86 85 96 289 368 225 
RP% 11.1 7.9 9.7 10.3 9.8 8.7 4.9 
TPO (pg/mL) 9.0 34.0 16.0 12.0 9.0 8.4 30.0 

Normal ranges of RP% and TPO are 1.4% to 9.1% and <106 pg/mL, respectively.23 

Hb, hemoglobin; Hct, hematocrit; MCV, mean corpuscular volume; MPV, mean platelet volume; N.D., not detected; PLT, platelet count; RBC, red blood cell count; RP%, percentage of reticulated platelets; WBC, white blood cell count; y.o., years old.

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