Molecular Biology of Polycythemia and Thrombocytosis

Molecular Biology of Polycythemia and Thrombocytosis

Our study is designed to characterize the clinical picture and genetic pattern of Polycythemia and Thrombocytosis. The purpose of this project is to find a gene and its mutation that causes these disorders. When this is accomplished, new therapies to control and eventually cure the disorder can be designed.

Our hypothesis is that genes and their mutation are causative of certain types of polycythemia and thrombocytosis. These will be sought for by genetic and cell biology means. The purpose of the study is to identify the molecular defect of these disorders.

5-7 teaspoons of peripheral blood will be drawn on all study subjects. After DNA is obtained, linkage analysis and/or mutation analysis will be performed.

Inclusion Criteria:

1. Subjects with an elevated hemoglobin concentration (>18 in males and >16 in females)
2. Subjects with an elevated platelet count (>450,000)

Exclusion Criteria:

1. Subjects who have a known acquired cause of polycythemia and thrombocytosis
2. Subjects with heart disease, left to right heart shunt or severe pulmonary disease