Table 1 Clinical characteristics of... | American Society of Hematology

Table 1

Clinical characteristics of members of two FPD/AML pedigrees

Pedigree/patient	Age at diagnosis, y	Actual age, y	Platelet count, 10⁹/L	Platelet function	Medular MK morphology	Bleeding history malignancy	Germline mutation	Actual status
AI-2	56		84	Abnormal	dysMKpoiesis	MDS/AML	R174Q	Deceased
AII-1*	19	40	109	Abnormal	dysMKpoiesis	Easy bruising	R174Q	Alive
AII-2*	18	39	134	Abnormal	dysMKpoiesis	Easy bruising	R174Q	Alive
AII-3	15		50	nk	nk	Medullar aplasia and AML-M1	R174Q	Deceased
BI-1	58		130	nk	nk	Easy bruising	R139X	Alive
BII-2*	nk	41	129	Abnormal	dysMKpoiesis	Hematomas	R139X	Alive
BII-3*	41		160	Abnormal	nk	Easy bruising	R139X	Alive
BII-5	22		nk	nk	nk	Posttraumatic bleeding inducing death	nk	Deceased
BIII-1*	1	4	96	Abnormal	dysMKpoiesis	Easy bruising	R139X	Alive

Pedigree/patient	Age at diagnosis, y	Actual age, y	Platelet count, 10⁹/L	Platelet function	Medular MK morphology	Bleeding history malignancy	Germline mutation	Actual status
AI-2	56		84	Abnormal	dysMKpoiesis	MDS/AML	R174Q	Deceased
AII-1*	19	40	109	Abnormal	dysMKpoiesis	Easy bruising	R174Q	Alive
AII-2*	18	39	134	Abnormal	dysMKpoiesis	Easy bruising	R174Q	Alive
AII-3	15		50	nk	nk	Medullar aplasia and AML-M1	R174Q	Deceased
BI-1	58		130	nk	nk	Easy bruising	R139X	Alive
BII-2*	nk	41	129	Abnormal	dysMKpoiesis	Hematomas	R139X	Alive
BII-3*	41		160	Abnormal	nk	Easy bruising	R139X	Alive
BII-5	22		nk	nk	nk	Posttraumatic bleeding inducing death	nk	Deceased
BIII-1*	1	4	96	Abnormal	dysMKpoiesis	Easy bruising	R139X	Alive

FPD indicates familial platelet disorder; AML, acute myeloid leukemia; MK, megakaryocyte; MDS, myelodysplasia syndrome; and nk, not known.

Patients samples used in experiments.