遗传疾病和遗传报告杂志

Hereditary Thrombocytosis in 3 Kuwaiti Siblings with Homozygous MPL Pro106Leu Mutation and Abnormal Platelet Aggregation

Preethi Reddy Marri, Salman Kirmani and Vilmarie Rodriguez

Hereditary Thrombocytosis in 3 Kuwaiti Siblings with Homozygous MPL Pro106Leu Mutation and Abnormal Platelet Aggregation

Thrombocytosis is defined as a platelet count of more than 450 × 109/L in adults and children. Primary thrombocytosis is characterized by an increase in platelets due to alterations targeting the hematopoietic cell and can be subdivided as hereditary (rare) and sporadic disease as in myeloproliferative and myelodysplastic conditions.