Exome sequencing of a family with thrombocytopenia and leukemia

A family with a history of bleeding, variable thrombocytopenia, red cell macrocytosis and two cases of pre B-cell acute lymphoblastic leukemia was studied in a single visit. The family was assessed for bleeding history using a bleeding questionnaire. Additionally, complete blood counts were measured and whole blood was collected from five affected individuals and three unaffected individuals for DNA extraction and whole exome sequencing. The goal of this study is to determine the genetic cause of thrombocytopenia, red cell macrocytosis, and predisposition to leukemia in a family. It is hoped that the information obtained from this study will help researchers understand the genetic and molecular basis of platelet and red cell production, as well as leukemia predisposition.]]>
Approved Informed Consent FormBleeding QuestionnaireStudy Documents Referral to the Hemophilia and Thrombosis Center for an acute bleeding event; OR Personal or family history of bleeding; OR Personal or family diagnosis of a bleeding disorder ]]>
March 2013 - patient visit: consent, history, and samples obtained October 2013 - exome sequencing ]]>