Study of Genetic and Functional Causes of Inherited Blood Cell and Clotting Disorders Including Glanzmann Thrombasthenia and Other Platelet, White and Red Blood Cell Disorders

What this Trial Is About

Researchers are studying blood disorders affecting platelets, white blood cells, red blood cells, and blood clotting factors found in plasma. The focus is on inherited platelet disorders such as Glanzmann thrombasthenia, which cause bleeding problems like nosebleeds, gum bleeding, easy bruising, heavy menstrual bleeding, and excessive bleeding after injury or surgery. The study aims to understand the genetic and functional causes of these disorders by analyzing blood samples and genetic material from patients and their families. Volunteers, including healthy individuals and patients with blood disorders or their relatives, visit the outpatient research center for detailed medical history, physical exams, and blood tests. Additional visits may be requested for further testing. If abnormalities are found, participants are advised to repeat tests in certified clinical laboratories. The study includes normal healthy volunteers aged 18 or older and patients or relatives of any age with inherited blood disorders. Participants undergo laboratory tests to evaluate platelet function, including measuring platelet aggregation time. Blood samples are collected for biochemical and genetic analysis. Researchers monitor platelet function and identify genetic defects that may cause the disorders. The study may involve follow-up visits for additional assessments. Participation involves no treatment but focuses on observation and detailed blood testing over time to better understand these inherited blood conditions.

The Genetics and Functional Basis of Inherited Platelet, White Blood Cell, Red Blood Cell, and Blood Clotting Disorders.