TY - JOUR
T1 - Familial dominant thrombocytopenia
T2 - Clinical, biologic, and molecular studies
AU - Iolascon, Achille
AU - Perrotta, Silverio
AU - Amendola, Giovanni
AU - Altomare, Maria
AU - Bagnara, Gian Paolo
AU - Del Vecchio, Maria Elena
AU - Savoia, Anna
PY - 1999/11
Y1 - 1999/11
N2 - Inherited thrombocytopenias are a heterogenous group of disorders. Different criteria have been suggested to classify the forms, such as the inheritance mechanism and the platelet volume as well as the number and morphology of megakaryocytes. However, the classification is often descriptive, and the precise mechanism of thrombocytopenia still remains unknown. We describe the clinical, biologic, and molecular findings of an autosomal dominant thrombocytopenia in a large family. The 17 patients had normocellular bone marrow and normal platelet volume. Platelets also showed a normal aggregation test and normal response to ADP and thrombopoietin (TPO). In the affected subjects, the mean ± SD levels of platelet count and plasma TPO were 62 ± 25 and 258 ± 151, respectively. Comparative analysis showed that the patients with platelet count
AB - Inherited thrombocytopenias are a heterogenous group of disorders. Different criteria have been suggested to classify the forms, such as the inheritance mechanism and the platelet volume as well as the number and morphology of megakaryocytes. However, the classification is often descriptive, and the precise mechanism of thrombocytopenia still remains unknown. We describe the clinical, biologic, and molecular findings of an autosomal dominant thrombocytopenia in a large family. The 17 patients had normocellular bone marrow and normal platelet volume. Platelets also showed a normal aggregation test and normal response to ADP and thrombopoietin (TPO). In the affected subjects, the mean ± SD levels of platelet count and plasma TPO were 62 ± 25 and 258 ± 151, respectively. Comparative analysis showed that the patients with platelet count
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M3 - Article
C2 - 10541317
AN - SCOPUS:0032745692
VL - 46
SP - 548
EP - 552
JO - Pediatric Research
JF - Pediatric Research
SN - 0031-3998
IS - 5
ER -