Genetic Study of Non-Malignant Blood Disorders and Related Family Members to Improve Understanding and Treatment

What this Trial Is About

Researchers are investigating the genetics of non-malignant blood diseases to better understand their causes and treatment. The study aims to collect and store various biological samples and health information from individuals with these blood disorders and their family members. By studying genes and genomes, the research hopes to uncover why some people develop blood diseases and why symptoms vary among affected individuals. Participants include individuals diagnosed or suspected to have genetic non-malignant blood disorders and their biologically related family members. Samples such as blood, bone marrow, hair follicles, nail clippings, urine, saliva, buccal swabs, and leftover tissue will be collected for genetic, genomic, proteomic, and metabolomic analyses. These analyses will be used to identify genetic alterations, modifier genes, and biomarkers associated with disease status, progression, treatment outcomes, and toxicities. Participants will provide detailed medical and family histories, and samples will be collected at study entry and yearly or as needed through July 2050. Genetic counseling and explanation of genetic testing implications are part of the process. Researchers will monitor genetic changes and clinical outcomes over time to improve understanding of these blood diseases. The primary outcome is the percentage of participants who agree to participate, while secondary outcomes involve identifying genetic variants related to disease and treatment.

Investigation of the Genetics of Hematologic Diseases